最新整形外科学大系　21　骨系統疾患、代謝性骨疾患

出版社： 中山書店
著者：
発行日： 2007-07-31
分野： 臨床医学：外科  >  整形外科学
ISBN： 9784521723815
シリーズ： 最新整形外科学大系
電子書籍版： 2007-07-31 （第１版第1刷）
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本巻では、骨・軟骨の発生・成長の過程での異常により、骨格が系統的に障害される疾患を集成した．骨X線所見を豊富に提示して臨床像を詳述するとともに、近年目覚ましい成果を示す分子生物学的知見による病態の解明や、遺伝相談に必要な知識を解説する。

目次

  • 最新整形外科学大系　21　骨系統疾患、代謝性骨疾患

    ―目次―

    １章　骨の成長・発達と異常
    ・骨関節と四肢
    ・脊椎・椎間板と脊柱
    ・身長と体型
    ・骨系統疾患・代謝性骨疾患の診断手順

    ２章　骨格異常の理解に必要な遺伝学

    ３章　低身長を特徴とする疾患
    ・骨端の異常
    　・多発性骨端異形成症
    　・Stickler症候群
    　・Conradi-Hu¨nermann 型点状軟骨異形成症
    ・脊椎と骨端の異常
    　・先天性脊椎・骨端異形成症
    　・X連鎖性遅発性脊椎・骨端異形成症
    　・遅発性脊椎・骨端異形成症
    ・骨幹端の異常
    　・Schmid型骨幹端軟骨異形成症
    　・McKusick型骨幹端軟骨異形成症
    　・Jansen型骨幹端軟骨異形成症
    ・脊椎と骨幹端の異常

    ４章　四肢短縮を特徴とする疾患
    ・軟骨無形成症とその類縁疾患
    　・軟骨無形成症
    　・軟骨低形成症
    　・致死性骨異形成症
    ・その他
    　・中間肢異形成症
    　・遠位中間肢異形成症
    　・先端異骨症

    ５章　四肢と体幹の短縮を特徴とする疾患
    ・偽性軟骨無形成症
    ・捻曲性骨異形成症
    ・変容性骨異形成症
    ・Kniest症候群
    ・Ellis-van Creveld症候群

    ６章　四肢が長くなる疾患および酵素欠損による蓄積性疾患
    ・Marfan症候群
    ・ホモシスチン尿症
    ・Morquio症候群
    ・その他のムコ多糖症

    ７章　奇形性疾患
    ・尖頭・合指(趾)症，尖頭・多合指(趾)症
    ・鎖骨・頭蓋異形成症
    ・Cornelia de Lange症候群
    ・Larsen症候群
    ・爪・膝蓋骨症候群
    ・耳・口蓋・指症候群
    ・口・顔面・指症候群
    ・毛髪・鼻・指節異形成症
    ・Rubinstein-Taybi症候群

    ８章　骨密度が低下する疾患
    ・骨形成不全症
    ・特発性骨溶解症（Hajdu-Cheney症候群）
    ・特発性若年性骨粗鬆症

    ９章　骨密度が増加する疾患
    ・大理石骨病
    ・濃化異骨症
    ・骨幹端異形成症
    ・Camurati-Engelmann病
    ・頭蓋・骨幹端異形成症，頭蓋・骨幹異形成症
    ・線状骨症
    ・骨斑紋症
    ・メロレオストーシス
    ・皮膚骨膜肥厚症
    ・骨Paget病

    10章　全身的な骨代謝異常による疾患
    ・低フォスファターゼ症
    ・高フォスファターゼ症
    ・上皮小体機能亢進症，上皮小体機能低下症
    ・偽性上皮小体機能低下症
    ・低リン血症性くる病/骨軟化症
    ・骨軟化症

    11章　多発性腫瘍類似疾患
    ・片肢性骨端異形成症
    ・多発性軟骨性外骨腫症
    ・内軟骨腫症(Ollier病とMaffucci症候群)

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本参考文献は電子書籍掲載内容を元にしております。

1章 骨の成長・発達と異常

P.7 掲載の参考文献
1. Sadler TW(安田峰生 訳). ラングマン人体発生学. 第9版. 東京: メディカルサイエンスインターナショナル; 2006.
 
2. 入江秀和, 塩田浩平. 形態形成とアポトーシス. 小児内科 2002; 34: 1742-5.
 
3. 松村譲兒. 骨格と関節. 遠山正彌ほか編. 人体発生学. 東京: 南山堂; 2003. p.265-97.
 
4. Dietz FR, Morcuende JA. Embryology and development of the musculoskeletal system. In: Morrissy RT, Weinstein SL, editors. Lovell and Winter's Pediatric Orthopaedics. 6th edition. Vol 1. Philadelphia: Lippincott Williams & Wilkins; 2005. p.1-33.
 
5. 井出宏之. 四肢(体肢). 遠山正彌ほか編. 人体発生学. 東京: 南山堂; 2003. p.315-34.
 
6. Shapiro F. Gene and molecular controls of limb development. In: Pediatric Orthopedic Deformities. San Diego: Academic Press; 2001. p.58-82.
 
7. 黒岩 厚. Hox遺伝子による四肢骨パターン形成の調節. 医学のあゆみ 2000; 194: 319-24.
Medical*Online
8. 岸田昭世, 菊池 章. 個体発生におけるWntシグナルの役割. 小児外科 2003; 35: 275-83.
 
9. 小柴和子ほか. 前後肢, 心臓左右心室決定にかかわるTbx遺伝子. 医学のあゆみ 2000; 194: 325-30.
Medical*Online
10. Hansman CF. Appearance and fusion of ossification centers in the human skeleton. Am J Roentgenol Radium Ther Nucl Med 1962; 88: 476-82.
PubMed
11. International Working Group on Constitutional Diseases of Bone. International nomenclature and classification of the osteochondrodysplasias(1997). Am J Med Genet 1998; 79: 376-82.
 
12. Hall CM. International nosology and classification of the constitutional disorders of bone (2001). Am J Med Genet 2002; 113: 65-77.
PubMed
13. 田中弘之. 骨系統疾患とアポトーシス. 小児内科 2002; 12: 1827-31.
 
P.11 掲載の参考文献
1. Sadler TW(安田峰生 訳). ラングマン人体発生学. 第9版. 東京: メディカルサイエンスインターナショナル; 2006.
 
2. 相賀裕美子. Notchシグナルを介した体節の分節機構. 医学のあゆみ 2001; 199: 891-6.
Medical*Online
3. 佐藤有紀, 高橋淑子. 体節形成のメカニズム. 小児外科 2003; 35: 284-91.
 
4. 松村譲兒. 骨格と関節. 遠山正彌ほか編. 人体発生学. 東京: 南山堂; 2003. p.265-97
 
5. El-Khoury GY, Sato Y. Imaging modalities. In: Weinstein SL, editor. The Pediatric Spine. Vol 1. New York: Raven Press; 1994. p.141-70.
 
6. Ogden JA, et al. Postnatal development and growth of the musculoskeletal system. In : Albright JA, Brand RA, editors. The Scientific Basis of Orthopaedics. 2nd edition. Norwalk : Appleton & Lange;1987. p.91-160.
 
7. Lachman RS. The cervical spine in the skeletal dysplasias and associated disorders. Pediatr Radiol 1997; 27: 402-8.
PubMed
8. Sparrow DB, et al. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet 2006; 78: 28-37.
PubMed
9. Kochling J, et al. Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome. Eur J Hum Genet 2001; 9: 599-605.
PubMed
P.17 掲載の参考文献
1. 児玉浩子. 成長. 五十嵐隆 編. 小児科学. 改訂第9版. 東京: 文光堂; 2004. p.7-24.
 
2. 厚生労働省雇用均等・児童家庭局. 平成12年乳幼児身体発育調査報告書. 2001. http://www.mhlw.go.jp/houdou/0110/h1024-4.html
 
3. 文部科学省. 平成17年度学校保健統計調査. http://www.mext.go.jp/b_menu/toukei/001/h17.htm
 
4. 小原二郎ほか. 人体を測る-計測値のデザイン資料. 東京: 日本出版サービス; 1986.
 
5. Jarzem PF, Gledhill RB. Predicting height from arm measurements. J Pediatr Orthop 1993; 13: 761-5.
PubMed
6. Dimeglio A. Growth in pediatric orthopaedics. In: Morrissy RT, Weinstein SL, editors. Lovell and Winter's Pediatric Orthopaedics. 6th edition. Vol 1. Philadelphia: Lippincott Williams & Wilkins; 2005. p.35-65.
 
7. 独立行政法人製品評価技術基盤機構. 人間特性データベース. http://www.tech.nite.go.jp/human/index.html
 
8. 渡辺 博, 山中龍宏. 日本人小児における手長, 手掌長, 足長の平均値. 日本小児科学会雑誌 1988; 92: 225-8.
 
9. Herring JA. The orthopaedic examination: Clinical application. In: Tachdjian's Pediatric Orthopaedics. 3rd edition. Philadelphia: Saunders; 2002. p.63-73.
 
10. 杉浦保夫. 日本人の骨年齢. 東京: 中外医学社; 2000.
 
11. 骨成熟研究グループ. コンピューター骨成熟評価システム-CASMASに基づく日本人標準骨年齢アトラス. 東京: 金原出版; 2003.
 
12. 芳賀信彦, 中村耕三. 骨系統疾患(2). 筒井廣明 編. 整形外科外来での病態把握のコツ. 関節外科 1998; 17(増刊号): 220-3.
 
13. 芳賀信彦. 四肢が長くなる疾患. Bone 2005; 19: 303-6.
Medical*Online
P.26 掲載の参考文献
1. Wynne-Davis R, et al. Atlas of Skeletal Dysplasias. New York: Churchill Livingstone; 1995.
 
2. 山本吉蔵 編. 新図説臨床整形外科10. 骨系統・代謝疾患. 東京: メジカルビュー社; 1994.
 
3. Nordin BEC, editor. Metabolic Bone and Stone Disease. New York: Churchill Livingstone; 1984.
 
4. 板根 剛, 森井浩世 編. 最新内科学大系73. 骨疾患. 東京: 中山書店; 1995.
 

2章 骨格異常の理解に必要な遺伝学

P.50 掲載の参考文献
1. Watson JD, Crick FH. Molecular structure of nucleic acids: a structure for deoxyribose nucleic acid. Nature 1953; 171: 737-8. PMID: 13054692.
 
2. Watson JD, Crick FH. Genetical implications of the structure of deoxyribonucleic acid. Nature 1953; 171: 964-7. PMID: 13063483.
 
3. Machida Y, et al. Discontinuous replication of replicative form DNA from bacteriophage phiX174. Proc Natl Acad Sci U S A 1977; 74: 2776-9. PMID: 268627.
 
4. Chu ML, et al. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature 1983; 304: 78-80. PMID: 6191221.
 
5. White R, et al. Construction of linkage maps with DNA markers for human chromosomes. Nature 1985; 313: 101-5. PMID: 2981412.
 
6. Saiki RK, et al. Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 1985; 230: 1350-4. PMID: 2999980.
 
7. Pinkel D, et al. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A 1986; 83: 2934-8. PMID: 3458254.
 
8. Snell RG, Wilkins RJ. Separation of chromosomal DNA molecules from C. albicans by pulsed field gel electrophoresis. Nucleic Acids Res 1986; 14: 4401-6. PMID: 3520483.
 
9. Nakamura Y, et al. Variable number of tandem repeat(VNTR)markers for human gene mapping. Science 1987; 235: 1616-22. PMID: 3029872.
 
10. Donis-Keller H, et al. A genetic linkage map of the human genome. Cell 1987; 51: 319-37. PMID: 3664638.
 
11. Wada A. Automated high-speed DNA sequencing. Nature 1987; 325: 771-2. PMID: 3821868.
 
12. Pocock NA, et al. Genetic determinants of bone mass in adults: a twin study. J Clin Invest 1987; 80: 706-10. PMID: 3624485.
 
13. Toguchida J, et al. Preferential mutation of paternally derived RB gene as the initial event in sporadic osteosarcoma. Nature 1989; 338: 156-8. PMID: 2918936.
 
14. Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989; 44: 388-96. PMID: 2916582.
 
15. Cox DR, et al. Radiation hybrid mapping: a somatic cell genetic method for constructing high-resolution maps of mammalian chromosomes. Science 1990; 250: 245-50. PMID: 2218528.
 
16. Malkin D, et al. Germ line p53 mutations in a familial syndrome of breast cancer sarcomas and other neoplasms. Science 1990; 250: 1233-8. PMID: 1978757.
 
17. Shoffner JM, et al. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNAlys mutation. Cell 1990; 61: 931-7. PMID: 2112427.
 
18. Goto Y, et al. A mutation in the tRNA-leu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651-3. PMID: 2102678.
 
19. Weinstein LS, et al. Mutations of the Gs α-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A 1990; 87: 8287-90. PMID: 2122458.
 
20. Suzuki Y, et al. Detection of ras gene mutations in human lung cancers by single-strand conformation polymorphism analysis of polymerase chain reaction products. Oncogene 1990; 5: 1037-43. PMID: 2197591.
 
21. Dietz HC, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352: 337-9. PMID: 1852208.
 
22. Vortkamp A, et al. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 1991; 352: 539-40. PMID: 1650914.
 
23. Soriano P, et al. Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice. Cell 1991; 64: 693-702. PMID: 1997203.
 
24. Lupski JR, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991; 66: 219-32. PMID: 1677316.
 
25. Kallioniemi A, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992; 258: 818-21. PMID: 1359641.
 
26. Tuerk C, et al. RNA pseudoknots that inhibit human immunodeficiency virus type 1 reverse transcriptase. Proc Natl Acad Sci U S A 1992; 89: 6988-92. PMID: 1379730.
 
27. McElreavy K, et al. XY sex reversal associated with a deletion 5′to the SRY "HMG box" in the testis-determining region. Proc Natl Acad Sci U S A 1992; 89: 11016-20. PMID: 1438307.
 
28. Buxton J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992; 355: 547-8. PMID: 1346924.
 
29. Weissenbach J, et al. A second-generation linkage map of the human genome. Nature 1992; 359: 794-801. PMID: 1436057.
 
30. Sarkar G, et al. Dideoxy fingerprinting (ddF): a rapid and efficient screen for the presence of mutations. Genomics 1992; 13: 441-3. PMID: 1612601.
 
31. Ruan X, et al. Bradyrhizobium japonicum rhizobitoxine genes and putative enzyme functions : Expression requires a translational frameshift. Proc Natl Acad Sci U S A 1993; 90: 2641-5. PMID: 8464870.
 
32. De Boulle K, et al. A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet 1993; 3: 31-5. PMID: 8490650.
 
33. Winterpacht A, et al. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nat Genet 1993; 3: 323-6. PMID: 7981752.
 
34. Nelson SF, et al. Genomic mismatch scanning: a new approach to genetic linkage mapping. Nat Genet 1993; 4: 11-8. PMID: 8513319.
 
35. Roest PA, et al. Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet 1993; 2: 1719-21. PMID: 8268929.
 
36. Foster JW, et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 1994; 372: 525-30. PMID: 7990924.
 
37. Velculescu VE, et al. Serial analysis of gene expression. Science 1995; 270: 484-7. PMID: 7570003.
 
38. Buiting K, et al. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 1995; 9: 395-400. PMID: 7795645.
 
39. Bellus GA, et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 1995; 10: 357-9. PMID: 7670477.
 
40. Bennett RL, et al. Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors. Am J Hum Genet 1995; 56: 745-52. PMID: 7887430.
 
41. Ahn J, et al. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet 1995; 11: 137-43. PMID: 7550340.
 
42. Schrock E, et al. Multicolor spectral karyotyping of human chromosomes. Science 1996; 273: 494-7. PMID: 8662537.
 
43. Herman JG, et al. Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci U S A 1996; 93: 9821-6. PMID: 8790415.
 
44. Moloney DM, et al. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 1996; 13: 48-53. PMID: 8673103.
 
45. Dittrich B, et al. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 1996; 14: 163-70. PMID: 8841186.
 
46. Hatada I, et al. An imprinted gene p57 (KIP2)is mutated in Beckwith-Wiedemann syndrome. Nat Genet 1996; 14: 171-3. PMID: 8841187.
 
47. Muragaki Y, et al. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 1996; 272: 548-51. PMID: 8614804.
 
48. El Ghouzzi V, et al. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet 1997; 15: 42-6. PMID: 8988167.
 
49. Thomas JT, et al. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat Genet 1997; 17: 58-64. PMID: 9288098.
 
50. Luger K, et al. Crystal structure of the nucleosome core particle at 2. 8 A resolution. Nature 1997; 389: 251-60. PMID: 9305837.
 
51. Goodman FR, et al. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci U S A 1997; 94: 7458-63. PMID: 9207113.
 
52. Komori T, et al. Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell 1997; 89: 755-64. PMID: 9182763.
 
53. Mundlos S, et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 1997; 89: 773-9. PMID: 9182765.
 
54. Maddox LO, et al. Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2-sulfatase gene. Biochem Mol Biol Int 1997; 43: 1163-71. PMID: 9442913.
 
55. Fire A, et al. Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature 1998; 391: 806-11. PMID: 9486653.
 
56. Heiss NS, et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998; 19: 32-8. PMID: 9590285.
 
57. Dreyer SD, et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 1998; 19: 47-50. PMID: 9590287.
 
58. Okawa A, et al Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. Nat Genet 1998; 19: 271-3. PMID: 9662402.
 
59. Kobayashi K, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998; 394: 388-92. PMID: 9690476.
 
60. Hamilton AJ, Baulcombe DC. A species of small antisense RNA in posttranscriptional gene silencing in plants. Science 1999; 286: 950-2. PMID: 10542148.
 
61. Bell DW, et al. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 1999; 286: 2528-31. PMID: 10617473.
 
62. Celli J, et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 1999; 99: 143-53. PMID: 10535733.
 
63. Draptchinskaia N, et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet 1999; 21: 169-75. PMID: 9988267.
 
64. Bi W, et al. Sox9 is required for cartilage formation. Nat Genet 1999; 22: 85-9. PMID: 10319868.
 
65. Gedeon AK, et al. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet 1999; 22: 400-4. PMID: 10431248.
 
66. Amir RE, et al. Rett syndrome is caused by mutations in X-linked MECP2 encoding methyl-CpG-binding protein 2. Nat Genet 1999; 23: 185-8. PMID: 10508514.
 
67. Xu GL, et al. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 1999; 402: 187-91. PMID: 10647011.
 
68. Ahrendt SA, et al. Rapid p53 sequence analysis in primary lung cancer using an oligonucleotide probe array. Proc Natl Acad Sci U S A 1999; 96: 7382-7. PMID: 10377423.
 
69. Annunen S, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet 1999; 65: 974-83. PMID: 10486316.
 
70. Davies H, et al. Profiling of amyloid β peptide variants using SELDI Protein Chip arrays. Biotechniques 1999; 27: 1258-61. PMID: 10631507.
 
71. Zamore PD, et al. RNAi: double-stranded RNA directs the ATP-dependent cleavage of mRNA at 21 to 23 nucleotide intervals. Cell 2000; 101: 25-33. PMID: 10778853.
 
72. Hammond SM, et al. An RNA-directed nuclease mediates post-transcriptional gene silencing in Drosophila cells. Nature 2000; 404: 293-6. PMID: 10749213.
 
73. Bielinska B, et al. De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch. Nat Genet 2000; 25: 74-8. PMID: 10802660.
 
74. Frattini A, et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 2000; 25: 343-6. PMID: 10888887.
 
75. Uejima H, et al. Hot-stop PCR: a simple and general assay for linear quantitation of allele ratios. Nat Genet 2000; 25: 375-6. PMID: 10932175.
 
76. Ridanpaa M, et al. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease cartilage-hair hypoplasia. Cell 2001; 104: 195-203. PMID: 11207361.
 
77. Gong Y, et al. LDL receptor-related protein 5(LRP5) affects bone accrual and eye development. Cell 2001; 107: 513-23. PMID: 11719191.
 
78. Venter JC, et al. The sequence of the human genome. Science 2001; 291: 1304-51. PMID: 11181995.
 
79. Lander ES, et al. Initial sequencing and analysis of the human genome. Nature 2001; 409: 860-921. PMID: 11237011.
 
80. Elbashir SM, et al. Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells. Nature 2001; 411: 494-8. PMID: 11373684.
 
81. Johnson GC, et al. Haplotype tagging for the identification of common disease genes. Nat Genet 2001; 29: 233-7. PMID: 11586306.
 
82. Brazma A, et al. Minimum information about a microarray experiment (MIAME)-toward standards for microarray data. Nat Genet 2001; 29: 365-71. PMID: 11726920.
 
83. Lee TI, et al. Transcriptional regulatory networks in Saccharomyces cerevisiae . Science 2002; 298: 799-804. PMID: 12399584.
 
84. Gurevich I, et al. Altered editing of serotonin 2C receptor pre-mRNA in the prefrontal cortex of depressed suicide victims. Neuron 2002; 34: 349-56. PMID: 11988167.
 
85. Ishizuka A, et al. A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins. Genes Dev 2002; 16: 2497-508. PMID: 12368261.
 
86. Okazaki Y, et al. Analysis of the mouse transcriptome based on functional annotation of 60, 770 full-length cDNAs. Nature 2002; 420: 563-73. PMID: 12466851.
 
87. Hirotsune S, et al. An expressed pseudogene regulates the messenger-RNA stability of its homologous coding gene. Nature 2003; 423: 91-6. PMID: 12721631.
 
88. Bridge AJ, et al. Induction of an interferon response by RNAi vectors in mammalian cells. Nat Genet 2003; 34: 263-4. PMID: 12796781.
 
89. Suzuki A, et al. Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat Genet 2003; 34: 395-402. PMID: 12833157.
 
90. Tokuhiro S, et al. An intronic SNP in a RUNX1 binding site of SLC22A4 encoding an organic cation transporter is associated with rheumatoid arthritis. Nat Genet 2003; 35: 341-8. PMID: 14608356.
 
91. Dyba M, et al. Immunofluorescence stimulated emission depletion microscopy. Nat Biotechnol 2003; 21: 1303-4. PMID: 14566345.
 
92. Sledz CA, et al. Activation of the interferon system by short-interfering RNAs. Nat Cell Biol 2003; 5: 834-9. PMID: 12942087.
 
93. Hutchinson S, et al. Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: A potential modifier of phenotype? Hum Mol Genet 2003; 12: 2269-76. PMID: 12915484.
 
94. Gelse K, et al. Collagens-structure, function, and biosynthesis. Adv Drug Deliv Rev 2003; 55: 1531-46. PMID: 14623400.
 
95. Ota T, et al. Complete sequencing and characterization of 21, 243 full-length human cDNAs. Nat Genet 2004; 36: 40-5. PMID: 14702039.
 
96. Weaver IC, et al. Epigenetic programming by maternal behavior. Nat Neurosci 2004; 7: 847-54 PMID: 15220929.
 
97. Begovich AB, et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase(PTPN22)is associated with rheumatoid arthritis. Am J Hum Genet 2004; 75: 330-7. PMID: 15208781.
 
98. Sebat J, et al. Large-scale copy number polymorphism in the human genome. Science 2004; 305: 525-8. PMID: 15273396.
 
99. Bertone P, et al. Global identification of human transcribed sequences with genome tiling arrays. Science 2004; 306: 2242-6. PMID: 15539566.
 
100. Kono T, et al. Birth of parthenogenetic mice that can develop to adulthood. Nature 2004; 428: 860-4. PMID: 15103378.
 
101. Lu J, et al. MicroRNA expression profiles classify human cancers. Nature 2005; 435: 834-8. PMID: 15944708.
 
102. Hornstein E, et al. The microRNA miR-196 acts upstream of Hoxb8 and Shh in limb development. Nature 2005; 438: 671-4. PMID: 16319892.
 
103. Bastepe M, et al. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet 2005; 37: 25-7. PMID: 15592469.
 
104. Kizawa H, et al. An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. Nat Genet 2005; 37: 138-44. PMID: 15640800.
 
105. Seki S, et al. A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease. Nat Genet 2005; 37: 607-12. PMID: 15864306.
 
106. Gicquel C, et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 2005; 37: 1003-7. PMID: 16086014.
 
107. Kochi Y, et al. A functional variant in FCRL3 encoding Fc receptor-like 3 is associated with rheumatoid arthritis and severe autoimmunities. Nat Genet 2005; 37: 478-85. PMID: 15838509.
 
108. The International HapMap Consortium. A haplotype map of the human genome. Nature 2005; 437: 1299-320. PMID: 16255080.
 
109. Abelson JF, et al. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 2005; 310: 317-20. PMID: 16224024.
 
110. Mototani H, et al. A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese. Hum Mol Genet 2005; 14: 1009-17. PMID: 15746150.
 
111. Redon R, et al. Global variation in copy number in the human genome. Nature 2006; 444: 444-54. PMID: 17122850.
 
112. Jones DC, et al. Regulation of adult bone mass by the zinc finger adapter protein Schnurri-3. Science 2006; 312: 1223-7. PMID: 16728642.
 
113. Yamada T, et al. Carminerin contributes to chondrocyte calcification during endochondral ossification. Nat Med 2006; 12: 665-70. PMID: 16680148.
 
114. Murdoch S, et al. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet 2006; 38: 300-2. PMID: 16462743.
 
115. Mavilio F, et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med 2006; 12: 1397-402. PMID: 17115047.
 

3章 低身長を特徴とする疾患

P.62 掲載の参考文献
1. Spranger JW, et al. Multiple epiphyseal dysplasia. In: Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development. 2nd edition. New York: Oxford Univ Press; 2002. p.141-6.
 
2. Taybi H, Lachman RS. Multiple epiphyseal dysplasia. In: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th edition. St Louis: Mosby; 1996. p.868-70.
 
3. Chapman KL, et al. Review: Clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia. Pediatr Pathol Mol Med 2003; 22: 53-75.
PubMed
4. Hall CM. International nosology and classification of constitutional disorders of bone(2001). Am J Med Genet 2002; 113: 65-77.
PubMed
5. Haga N, et al. Stature and severity in multiple epiphyseal dysplasia. J Pediatr Orthop 1998; 18: 394-7.
PubMed
6. Jakkula E, et al. Mutations in the known genes are not the major cause of MED: Distinctive phenotypic entities among patients with no identified mutations. Eur J Hum Genet 2005; 13: 292-301.
PubMed
7. Mabuchi A, et al. Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum Genet 2003; 112: 84-90.
PubMed
8. Budde B, et al. Altered integration of matrilin-3 into cartilage extracellular matrix in the absence of collagen IX. Mol Cell Biol 2005; 25: 10465-78.
PubMed
9. Takahashi M, et al. Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2). Clin Rheumatol 2006; 25: 591-5.
PubMed
10. Eyre DR, et al. Covalent cross-linking of the NC1 domain of collagen type IX to collagen type II in cartilage. J Biol Chem 2004; 279: 2568-74.
PubMed
11. Wu JJ, et al. Identification of cross-linking sites in bovine cartilage type IX collagen reveals an antiparallel type II-type IX molecular relationship and type IX to type IX bonding. J Biol Chem 1992; 267: 23007-14.
PubMed
12. Nakata K, et al. Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing α 1(IX) collagen chains with a central deletion. Proc Natl Acad Sci USA 1993; 90: 2870-4.
 
13. Kimura T, et al. Progressive degeneration of articular cartilage and intervertebral discs: An experimental study in transgenic mice bearing a type IX collagen mutation. Int Orthop 1996; 20: 177-81.
PubMed
14. Ballhausen D, et al. Recessive multiple epiphyseal dysplasia(rMED): Phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet 2003; 40: 65-71.
PubMed
15. Makitie O, et al. Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients. Am J Med Genet A 2004; 125: 278-84.
 
16. Wu JJ, Eyre DR. Matrilin-3 forms disulfide-linked oligomers with matrilin-1 in bovine epiphyseal cartilage. J Biol Chem 1998; 273: 17433-8.
PubMed
17. Mabuchi A, et al. Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. Hum Mutat 2004; 24: 439-40.
PubMed
P.65 掲載の参考文献
1. Stickler G, et al. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 1965; 40: 433-55.
PubMed
2. Annunen S, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet 1999; 65: 974-83.
PubMed
3. Griffith AJ, et al. Marshall syndrome associated with a splicing defect at the COL11A1 gene. Am J Hum Genet 1998; 62: 816-23.
PubMed
4. Ritvaniemi P, et al. A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: Analysis of the COL2A1 gene by denaturing gradient gel electrophoresis. Genomics 1993; 17: 218-21.
PubMed
5. Williams CJ, et al. A(-2)-to G transition at the 3-prime acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Am J Med Genet 1996; 63: 461-7.
 
6. Liberfarb RM, et al. The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from 7 mutations in the type II collagen gene locus COL2A1. Genet Med 2003; 5: 21-7.
 
7. Li Y, et al. A fibrillar collagen gene, Col11a1 is essential for skeletal morphogenesis. Cell 1995; 80: 423-30.
 
8. Taybi H, Lachman RS. Stickler syndrome. In: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th edition. St Louis: Mosby; 1996. p.470-1.
 
9. 西村 玄. Stickler症候群. 骨系統疾患X線アトラス-遺伝性骨疾患の鑑別診断. 東京: 医学書院; 1993. p.56.
 
10. 田中葉子. Stickler dysplasia (Stickler 骨異形成症). 伊藤文之ほか編. 目でみる骨系統疾患2004. 小児内科2004; 36 (増刊号): 360-4.
 
P.68 掲載の参考文献
1. Conradi E. Vorzeitiges Auftreten von Knochen- und eigen-artigen Verkalkungskernen bei Chondrodystrophia fotalis hypoplastica: Histologische und Rontgenuntersuchungen. Jahrbkinderheilk 1914; 80: 86-97.
 
2. 池川志郎. Chondrodysplasia punctata(CDP). 点状軟骨異形成症-概説. 伊藤文之ほか編. 目でみる骨系統疾患2004. 小児内科 2004; 36(増刊号): 140-3.
 
3. Hall CM. International nosology and classification of constitutional disorders of bone(2001). Am J Med Genet 2002; 113: 65-77.
PubMed
4. 池川志郎. Chondrodysplasia punctata, X-linked dominant type. X連鎖優性型点状軟骨異形成症(OMIM 302960). 伊藤文之ほか編. 目でみる骨系統疾患2004. 小児内科 2004; 36(増刊号): 336-7.
 
5. Braverman N, et al. Mutations in the gene encoding 3β-hydroxysteroid-Δ8, Δ7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat Genet 1999; 22: 291-4.
 
6. Mason DE, et al. Spinal deformity in chondrodysplasia punctata. Spine 2002; 27: 1995-2002.
PubMed
7. 和田 研ほか. 長期追跡したChondrodysplasia punctata の3例. 整形外科と災害外科1984; 33: 234-46.
 
P.73 掲載の参考文献
1. Donahue LR, et al. A missense mutation in the mouse Col2al gene causes spondyloepiphyseal dysplasia congenital, hearing loss, and retinoschisis. J Bone Miner Res 2003; 18: 1612-21.
 
2. 西山正紀ほか. 先天性脊椎骨端異形成症成人例の臨床的特徴. 臨整外 2003; 38: 339-43.
 
3. Wynne-Davies R, Hall C. Two clinical variants of spondylo-epiphysial dysplasia congenita. J Bone Joint Surg Br 1982; 64: 435-41.
PubMed
4. 池川志郎ほか. 先天性脊椎骨端骨異形成症の5例. 整形外科1988; 39: 197-204.
 
5. Miyoshi K, et al. Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenital. Spine 2004; 29(21): E488-91.
PubMed
6. Nakamura K, et al. Risk factors of myelopathy at the atlantoaxial level in spondyloepiphyseal dysplasia congenita. Arch Orthop Trauma Surg 1998; 117: 468-70.
PubMed
7. Murray T, et al. Spondyloepiphyseal dysplasia congenita: Light and electron microscopic studies of the eye. Arch Ophthalmol 1985; 103: 407-11.
PubMed
8. Hamidi-Toosi S, et al. Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenital. Ophthalmology 1982; 100: 1104-7.
 
9. Ikegawa S, et al. Retinal detachment in spondyloepiphyseal dysplasia congenita. J Pediatr Orthop 1993; 13: 791-2.
PubMed
P.76 掲載の参考文献
1. Maroteaux P, et al. La dysplasie spondylo-epiphysaire tardive: Description clinique et radiologique. Presse Med 1957; 65: 1205-8.
PubMed
2. MacKenzie JJ, et al. X linked spondyloepiphyseal dysplasia: A clinical, and molecular study of a large kindred. J Med Genet 1996; 33: 823-8.
 
3. Wynne-Davies R, Gormley J. The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic case. J Bone Joint Surg Br 1985; 67: 133-7.
 
4. Szpiro-Tapia S, et al. Spondyloepiphyseal dysplasia tarda: Linkage with genetic markers from the distal short arm of the X chromosome. Hum Genet 1988; 81: 61-3.
PubMed
5. Heuertz S, et al. The gene for spondyloepiphyseal dysplasia tarda (SEDL) maps to Xp22 between DXS16 and DXS92. Genomics 1993; 18: 100-4.
PubMed
6. Heuertz S, et al. Genetic mapping of Xp22. 12-p22. 31, with a refined localization for spondyloepiphyseal dysplasia (SEDL). Hum Genet 1995; 96: 407-10.
PubMed
7. Gedeon AK, et al. Identification of the gene(SEDL)causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet 1999; 22: 400-4.
PubMed
8. Matsui Y, et al. Loss of the SEDL gene product (SEDLIN) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family. Am J Med Genet 2001; 99: 328-30.
 
9. Iceton JA, Horne G. Spondyloepiphyseal dysplasia tarda. J Bone Joint Surg Br 1986; 68: 616-9.
PubMed
10. Weinfeld A, et al. Spondylo-epiphyseal dysplasia tarda: A cause of premature osteoarthritis. Am J Roentgenol Radium Ther Nucl Med 1967; 101: 851-9.
 
11. Bannerman RM. X-linked spondyloepiphyseal dysplasia tarda: Clinical and linkage data. J Med Genet 1971; 8: 291-301.
 
12. 西村 玄. Spondyloepiphyseal dysplasia tarda. 骨系統疾患X線アトラス-遺伝性骨疾患の鑑別診断. 東京: 医学書院; 1993. p.96-9.
 
13. 鶴田登代志. Spondyloepiphyseal dysplasia tarda(X-linked recessive). 先天性骨系統疾患-骨異形成症および異骨症. 東京: 金原出版; 1986. p.99-100.
 
14. Poker N, et al. Spondyloepiphyseal dysplasia tarda: Four cases in childhood and adolescence and considerations regarding platyspondyly. Radiology 1965; 85: 474-80.
PubMed
15. Harper PS, et al. Spondylo-epiphyseal dysplasia tarda: A report of four cases in two families. Br J Radiol 1973; 46: 676-84.
 
16. Langer LO Jr. Spondyloepiphyseal dysplasia tarda: Hereditary chondrodysplasia with characteristic vertebral configulation in the adult. Radiology 1964; 82: 833-9.
 
P.81 掲載の参考文献
1. Gedeon AK, et al. Identification of the gene(SEDL)causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet 1999; 22: 400-4.
PubMed
2. Anderson IJ, et al. Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen. Am J Med Genet 1990; 37: 272-6.
 
3. Ramesar R, Beighton p.Spondyloepiphyseal dysplasia in a Cape Town family: Linkage with the gene for type II collagen (COL2A1). Am J Med Genet 1992; 43: 833-8.
 
4. Martin JR, et al. Platyspondyly, polyarticular osteoarthritis, and absent β2-globulin in two brothers. Arthritis Rheum 1970; 13: 53-67.
 
5. Leroy JG, et al. A new type of autosomal recessive spondyloepiphyseal dysplasia tarda. Am J Med Genet 2004; 125: 49-56.
 
6. Kohn G, et al. Spondyloepiphyseal dysplasia tarda: A new autosomal recessive variant with mental retardation. J Med Genet 1987; 24: 366-77.
PubMed
7. Toledo SPA, et al. Recessive inherited, late onset, spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: A possible error of chondroitin-6-sulfate synthesis. Am J Med Genet 1978; 2: 385-95.
 
8. Huson SM, et al. Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies. Clin Dismorph 1993; 2: 20-7.
PubMed
9. Matsui Y, et al. Loss of the SEDL gene product (SEDLIN) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family. Am J Med Genet 2001; 99: 328-30.
 
10. 松井好人ほか. X-linked SED tarda(X連鎖性遅発性脊椎骨端異形成症). 伊藤文之ほか編. 目でみる骨系統疾患2004. 小児内科2004;36(増刊号): 395-8.
 
11. 西村 玄. Spondyloepiphyseal dysplasia tarda. 骨系統疾患X線アトラス-遺伝性骨疾患の鑑別診断. 東京: 医学書院; 1993. p.96-9.
 
12. Taybi H, Lachman RS. Spondyloepiphyseal dysplasia tarda (SED-tarda). In: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th edition. St Louis: Mosby; 1996. p.926-7.
 
P.84 掲載の参考文献
1. Schmid F. Beitrag zur Dysostosis enchondralis metaphysaria. Monatsschr Kinderheilkd 1949; 97: 393.
 
2. Warman ML, et al. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nat Genet 1993; 5: 79-82.
PubMed
3. McIntosh I, et al. Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. Hum Mol Genet 1994; 3: 303-7.
PubMed
4. Ikegawa S, et al. Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. Hum Mutat 1997; 9: 131-5.
 
5. Lachman RS, et al. Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. Pediatr Radiol 1988; 18: 93-102.
PubMed
6. Ikegawa S, et al. Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. Am J Hum Genet 1998; 63: 1659-62.
PubMed
P.88 掲載の参考文献
1. McKusick VA, et al. Metaphyseal dysostosis and thin hair: A new recessively inherited syndrome. Lancet 1964; 1: 832-3.
 
2. McKusick VA, et al. Dwarfism in the Amish. II. Cartilage-hair hypoplasia. Bull Johns Hopkins Hosp 1965; 116: 285-326.
PubMed
3. Makitie O. Cartilage-hair hypoplasia in Finland: Epidemiological and genetic aspects of 107 patients. J Med Genet 1992; 29: 652-5.
PubMed
4. Buckley RH. Primary immunodeficiency disease due to defects in lymphocytes. N Engl J Med 2000;343 : 1313-24.
PubMed
5. Hermanns P, et al. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet 2005; 14: 3723-40.
PubMed
6. Yel L, et al. Cartilage-hair hypoplasia syndrome: Increased apoptosis of T lymphocytes is associated with altered expression of Fas(CD95), FasL(CD95L), IAP, Bax, and Bcl2. J Clin Immunol 1999; 19: 428-34.
 
7. Sulisalo T, et al. Uniparental disomy in cartilage-hair hypoplasia. Eur J Hum Genet 1997; 5: 35-42.
PubMed
8. Makitie O, et al. Growth in cartilage-hair hypoplasia. Pediatr Res 1992; 31: 176-80.
PubMed
9. 西村 玄. Metaphyseal chondrodysplasia McKusick型(cartilage-hair hypoplasia). 骨系統疾患X線アトラス-遺伝性骨疾患の鑑別診断. 東京: 医学書院; 1993. p.107.
 
10. Brennan TE, Pearson RW. Abnormal elastic tissue in cartilage-hair hypoplasia. Arch Dermatol 1988; 124: 1411-4.
PubMed
11. Glass RBJ, Tifft CJ. Radiologic changes in infancy in McKusick cartilage hair hypoplasia. Am J Med Genet 1999; 86: 312-5.
 
12. Bonafe L, et al. RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphism. Clin Genet 2002; 61: 146-51.
PubMed
13. Hata A, et al. Use of an inactivated varicella vaccine in recipients of hematopoietic-cell transplants. N Engl J Med 2002; 347: 26-34.
PubMed
14. Harada D, et al. An effective case of growth hormone treatment on cartilage-hair hypoplasia. Bone 2005; 36: 317-22.
PubMed
15. Williams MS, et al. The natural history of severe anemia in cartilage-hair hypoplasia. Am J Med Genet A 2005; 138: 35-40.
PubMed
16. Makitie O, et al. Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis. J Pediatr Surg 2002; 37: 1585-8.
PubMed
17. Makitie O, et al. Increased mortality in cartilage-hair hypoplasia. Arch Dis Child 2001; 84: 65-7.
PubMed
P.92 掲載の参考文献
1. 西村 玄. Metaphyseal chondrodysplasia Jansen型. 骨系統疾患X線アトラス-遺伝性骨疾患の鑑別診断. 東京: 医学書院; 1993. p.109-10.
 
2. 佐々木悟郎, 長谷川奉延. Metaphyseal dysplasia Jansen type. 骨幹端異形成症. 伊藤文之ほか編. 目でみる骨系統疾患 2004. 小児内科 2004: 36(増刊号): 374-5.
 
3. Scbipani E, et al. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995; 268: 98-100.
 
4. Spranger JW, et al. Metaphyseal dysplasia, Jansen type. In: Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development. 2nd edition. Munchen: Oxford Univ Press; 2002. p.95-9.
 
5. Scbipani E, et al. Targeted expression of constitutively active receptors for parathyroid hormone and parathyroid hormone-related peptide delays endochondral bone formation and rescues mice that lack parathyroid hormone-related peptide. Proc Natl Acad Sci USA 1997; 94: 13689-94.
 
6. Kikuchi S, et al. Metaphysial dysostosis(Jansen type). Report of a case with long follow-up.J Bone Joint Surg Br 1976; 58: 102-6.
PubMed
7. Silverthorn KG, et al. Murk Jansen's metaphyseal chondrodysplasia with longterm followup.Pediatr Radiol 1987; 17: 119-23.
 
8. Hopyan S, et al. A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat Genet 2002; 30: 306-10.
PubMed
P.96 掲載の参考文献
1. Hall CM. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 2002; 113: 65-77.
PubMed
2. Savarirayan R, et al. Schmid type metaphyseal chondrodysplasia: A spondylometaphyseal dysplasia identical to the "Japanese" type. Pediatr Radiol 2000; 30: 460-3.
 
3. Ikegawa S, et al. Mutation of the type X collagen gene(COL10A1)causes spondylometaphyseal dysplasia. Am J Hum Genet 1998; 63: 1659-62.
PubMed
4. Langer LO, et al. Spondylometaphyseal dysplasia, corner fracture type: A heritable condition associated with coxa vara. Radiology 1990; 175: 761-6.
PubMed
5. Sutton VR, et al. A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis. Am J Med Genet 2005; 133A: 209-12.
PubMed
6. Kozlowski K, et al. A new type of spondylo-metaphyseal dysplasia-Algerian type: Report of five cases. Pediatr Radiol 1988; 18: 221-6.
 
7. Kerr B, et al. Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings. Clin Dysmorphol 2000; 9: 167-72.
PubMed
8. English SJ, et al. Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. Am J Med Genet A 2006; 140: 1854-8.
 

4章 四肢短縮を特徴とする疾患

P.104 掲載の参考文献
1. 安井夏生. 先天性骨系統疾患. 鳥巣岳彦ほか編. 標準整形外科学. 第9版. 東京: 医学書院; 2005. p.246-65.
 
2. Spranger JW, et al. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development. 2nd edition. Munchen: Oxford Univ Press; 2002.
 
3. 安井夏生. 遺伝子診断に基づく骨系統疾患国際分類. 日整会誌2001; 75: 3-17.
 
4. Nicoletti B. et al. Human Achondroplasia: A Multidisciplinary Approach. New York: Plenum Press; 1988.
 
5. Horton WA. Recent milestones in achondroplasia research. Am J Med Genet A 2006; 140: 166-9.
PubMed
6. Hall CM. International nosology and classification of constitutional disorders of bone(2001). Am J Med Genet 2002;113: 65-77.
PubMed
7. Shiang R, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994; 78: 335-42.
PubMed
8. Rousseau F, et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 1994; 371: 252-4.
PubMed
9. Bellus GA, et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 1995; 10: 357-9.
PubMed
10. Rousseau F, et al. Clinical and genetic heterogeneity of hypochondroplasia. J Med Genet 1996; 33: 749-52.
PubMed
11. Chiari H. Uber familiare Chondrodystrophia fotalis. Muench Med Wschr 1913; 60: 248-9.
 
12. Fairbank HA. Achondroplasia: Synonyms, chondrodystrophia foetalis, micromelia. J Bone Joint Surg Br 1949; 31: 600-7.
 
13. Spranger J. International nomenclature of constitutional bone diseases (the Paris nomenclature). Fortschr Geb Rontgenstr Nuklearmed 1971; 115: 283-7.
PubMed
14. Maroteaux p.International nomenclature of constitutional diseases of bones with bibliography. Birth Defects 1986; 22: 1-54.
PubMed
15. Penrose LS. Parental age and mutation. Lancet 1955; 269: 312-3.
PubMed
16. Thompson JN Jr, et al. Achondroplasia and parental age〔Letter〕. N Engl J Med 1986; 314: 521-2.
PubMed
17. Tiemann-Boege I, et al. The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. Proc Natl Acad Sci USA 2002; 99: 14952-7.
PubMed
18. Aviezer D, et al. Fibroblast growth factor receptor-3 as a therapeutic target for achondroplasia: Genetic short limbed dwarfism. Curr Drug Targets 2003; 4: 353-65.
PubMed
19. Horton WA, et al. Growth hormone therapy in achondroplasia. Am J Med Genet 1992; 42: 667-70.
PubMed
20. Yasoda A, et al. Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. Nat Med 2004; 10: 80-6.
PubMed
21. Yasui N, et al. Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia. Clin Orthop Rel Res 1997; (344): 298-306. 参考資料http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100800
 
P.108 掲載の参考文献
1. Beals RK. Hypochondroplasia: A report of five kindreds. J Bone Joint Surg Am 1969; 51: 728-36.
PubMed
2. Hall CM. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 2002; 113: 65-77.
PubMed
3. Bellus GA, et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 1995; 10: 357-9.
PubMed
4. 松井好人ほか. Hypochondroplasia(軟骨低形成症). 伊藤文之ほか編. 目で見る骨系統疾患2004. 小児内科2004; 36 (増刊号): 311-3.
 
5. Mullis PE, et al. Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: Genetic linkage of the insulin like growth factor I gene at chromosome 12q23 to the disease in a subgroup of these patients. Clin Endocrinol 1991; 34: 265-74.
 
6. Appan S, et al. Growth and growth hormone therapy in hypochondroplasia. Acta Paediatr Scand 1990; 79: 796-803.
PubMed
7. Matsui Y, et al. Genotype phenotype correlation in achondroplasia and hypochondroplasia. J Bone Joint Surg Br 1998; 80: 1052-6.
PubMed
8. Tanaka N, et al. The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. Endocr J 2003; 50: 69-75.
PubMed
9. Kanazawa H, et al. Efficacy of growth hormone therapy for patients with skeletal dysplasia. J Bone Miner Metab 2003; 21: 307-10.
PubMed
P.110 掲載の参考文献
1. Maroteaux P, et al. Le nanisme thanatophore. Presse Med 1967; 75: 2519-24.
PubMed
2. Serville F, et al. Thanatophoric dysplasia of identical twins〔Letter. Am J Med Genet 1984; 17: 703-6.
 
3. 西村 玄. Thanatophoric dysplasia I型, II型. 骨系統疾患X線アトラス-遺伝性骨疾患の鑑別診断. 東京: 医学書院; 1993. p.39-40.
 
4. Spranger JW, et al. Thanatophoric dysplasia, types 1 and 2. In: Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development. 2nd edition. Munchen : Oxford Univ Press; 2002. p.3-6.
 
5. 澤井英明. 致死性骨異形成症, type I, type II. 小児内科 2004: 36: 300-1.
 
P.113 掲載の参考文献
1. International Working Group on Constitutional Diseases of Bone. International nomenclature and classification of the osteochondrodysplasias (1997). Am J Med Genet 1997; 79: 376-82.
 
2. Hall CM. International nosology and classification of constitutional disorders of bone(2001). Am J Med Genet 2002; 113: 65-77.
PubMed
3. Ogata T. SHOX haploinsufficiency: Lessons from clinical studies. Curr Opin Endocrinol Diabetes 2002; 9: 13-20.
 
4. 緒方 勤. Leri-Weill型異軟骨骨症, Langer型中間肢異形成症. 伊藤文之ほか編. 目でみる骨系統疾患2004. 小児内科 2004; 36(増刊号): 406-9.
 
5. Dave G, et al. Clinical variation in dyschondrosteosis. J Bone Joint Surg Br 1982; 64: 377-81.
 
6. 小林大介ほか. Dyschondrosteosis の2家族例. 日小整会誌1998; 7: 18-24.
 
7. 西村 玄. Mesomelic dysplasia. 骨系統疾患X線アトラス-遺伝性骨疾患の鑑別診断. 東京: 医学書院; 1993. p.35-8.
 
8. 上野高明. 中間肢異形成症Nievergelt型. 伊藤文之ほか編. 目でみる骨系統疾患2004. 小児内科2004; 36(増刊号): 160-1.
 
9. 小野芳裕. 骨系統疾患シリーズ-中間肢異形成症(Nievergelt型). 整形外科1993; 44: 150-1.
 
10. 草別一成ほか. 中間肢異形成症(type Reinhardt)の1例. 整形外科1995; 46: 81-5.
 
11. 黒澤健司. Robinow症候群(常染色体優性型, 常染色体劣性型). 伊藤文之ほか編. 目でみる骨系統疾患2004. 小児内科2004; 36(増刊号): 162-3.
 
P.116 掲載の参考文献
1. Bartels CF, et al. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet 2004; 75: 27-34.
PubMed
2. Kilpatrick MW, Tripouras p.CDMP1 and chondrodysplasia (Grebe, Hunter-Thompson, and Du Pan types) and brachydactyly, type C. In : Epstein CJ, et al, editors. Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis. Oxford: Oxford Univ Press; 2004. p.314-8.
 
3. Seemann P, et al. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest 2005; 115: 2373-81.
PubMed
4. Demirhan O, et al. A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. J Med Genet 2005; 42: 314-7.
PubMed
5. Osebold WR, et al. An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei. Am J Med Genet 1985; 22: 791-809.
PubMed
6. Superti-Furga A, Unger S. Nosology and classification of genetic skeletal disorders : 2006 revision. Am J Med Genet A 2007; 143: 1-18.
 
P.118 掲載の参考文献
1. Pfeiffer RA. Associated deformities of the head and hands. Birth Defects 1969; 3: 18-34.
 
2. Steiner RD, Pagon RA. Autosomal dominant transmission of acrodysostosis. Clin Dysmorphol 1992; 43: 201-6.
 
3. Jones K, et al. Older parental age and fresh gene mutation: Data on additional disorders. J Pediatr 1975; 86: 84-8.
PubMed
4. Niikawa N, et al. Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis and blue eyes in Japanese siblings. Hum Genet 1978; 42: 227-32.
PubMed

5章 四肢と体幹の短縮を特徴とする疾患

P.123 掲載の参考文献
1. Hecht JT, et al. Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Nat Genet 1995; 10: 325-9.
PubMed
2. Ikegawa S, et al. Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]. Am J Med Genet 1998; 77: 356-9.
PubMed
3. Hall CM. International nosology and classification of constitutional disorders of bone(2001). Am J Med Genet 2002; 113: 65-77.
PubMed
4. Mabuchi A, et al. Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. Am J Med Genet A 2004; 129: 35-8.
 
5. Briggs MD, et al. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nat Genet 1995; 10: 330-6.
PubMed
6. Mabuchi A, et al. Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum Genet 2003; 112: 84-90.
PubMed
7. Stanescu R, et al. The biochemical defect of pseudoachondroplasia. Eur J Pediatr 1982; 138: 221-5.
PubMed
8. Taybi H, Lachman RS. Pseudoachondroplasia. In: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th edition. St Louis: Mosby; 1996. p.899-900.
 
9. 西村 玄. Pseudoachondroplasia. 骨系統疾患X線アトラス-遺伝性骨疾患の鑑別診断. 東京: 医学書院; 1993. p.91-3.
 
10. 池川志朗. Pseudoachondroplasia(偽性軟骨無形成症). 伊藤文之ほか編. 目でみる骨系統疾患2004. 小児内科2004; 36 (増刊号): 367-9.
 
11. 鬼頭浩史. 偽性軟骨無形成症. 守屋秀繁ほか編. 整形外科診療実践ガイド. 東京: 文光堂; 2006. p.398-400.
 
P.130 掲載の参考文献
1. Hollister DW, Lachman RS. Diastrophic dwarfism. Clin Orthop Relat Res 1976; (114): 61-9.
PubMed
2. Lamy M, Maroteaux p.Le nanisme diastrophique. Presse Med 1960; 68: 1977-80.
 
3. Lachman R, et al. Diastrophic dysplasia: The death of a variant. Radiology 1981; 140: 79-86.
PubMed
4. Gustavson KH, et al. Lethal and non-lethal diastrophic dysplasia. A study of 14 Swedish cases. Clin Genet 1985; 28: 321-34.
PubMed
5. Hastbacka J, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter : Positional cloning by fine-structure linkage disequilibrium mapping. Cell 1994; 78: 1073-87.
PubMed
6. Shapiro F. Light and electron microscopic abnormalities in diastrophic dysplasia growth cartilage. Calcif Tissue Int 1992; 51: 324-31.
PubMed
7. Crockett MM, et al. Motor milestones in children with diastrophic dysplasia. J Pediatr Orthop 2000; 20: 437-41.
PubMed
8. Makitie O, Kaitila I. Growth in diastrophic dysplasia. J Pediatr 1997; 130: 641-6.
PubMed
9. Ryoppy S, et al. Foot deformities in diastrophic dysplasia. An analysis of 102 patients. J Bone Joint Surg Br 1992; 74: 441-4.
PubMed
10. Remes V, et al. Cervical kyphosis in diastrophic dysplasia. Spine 1999; 24: 1990-5.
PubMed
11. Remes V, et al. Cervical spine in patients with diastrophic dysplasia-Radiographic findings in 122 patients. Pediatr Radiol 2002; 32: 621-8.
PubMed
12. Poussa M, et al. The spine in diastrophic dysplasia. Spine 1991; 16: 881-7.
PubMed
13. Remes V, et al. Thoracic and lumbar spine in diastrophic dysplasia: A clinical and magnetic resonance imaging analysis. Spine 2001; 26: 187-95.
PubMed
14. Vaara P, et al. Development of the hip in diastrophic dysplasia. J Bone Joint Surg Br 1998; 80: 315-20.
PubMed
15. Peltonen J, et al. The knee joint in diastrophic dysplasia. A clinical and radiological study. J Bone Joint Surg Br 1999; 81: 625-31.
PubMed
16. Gollop TR, Eigier A. Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks. Am J Med Genet 1987; 27: 321-4.
 
17. Matsuyama Y, et al. The spine in diastrophic dysplasia. The surgical arthrodesis of thoracic and lumbar deformities in 21 patients. Spine 1999; 24: 2325-31.
PubMed
18. Helenius I, et al. Total knee arthroplasty in patients with diastrophic dysplasia. J Bone Joint Surg Am 2003; 85: 2097-102.
PubMed
19. Helenius I, et al. Total hip arthroplasty in diastrophic dysplasia. J Bone Joint Surg Am 2003; 85: 441-7.
PubMed
P.134 掲載の参考文献
1. Maroteaux P, et al. Der metatropische Zwergwuchs. Arch Kinderheilk 1966; 173: 211-26.
PubMed
2. Taybi H, Lachman RS. Metatropic dysplasia. In: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th edition. St Louis : Mosby;1996. p.860-3.
 
3. Hall CM. International nosology and classification of constitutional disorders of bone(2001). Am J Med Genet 2002; 113: 65-77.
PubMed
4. Beck M, et al. Heterogeneity of metatropic dysplasia. Eur J Pediatr 1983; 140: 231-7.
PubMed
5. Genevieve D, et al. Long-term follow-up in a patient with metatropic dysplasia. Am J Med Genet A 2005; 135: 342-3.
 
6. Kozlowski K, et al. Metatropic dysplasia and its variants (analysis of 14 cases). Australas Radiol 1988; 32: 325-37.
PubMed
7. Hall CM, Elcioglu NH. Metatropic dysplasia lethal variants. Pediatr Radiol 2004; 34: 66-74.
PubMed
8. Boden SD, et al. Metatropic dwarfism: Uncoupling of endochondral and perichondral growth. J Bone Joint Surg Am 1987; 69: 174-84.
PubMed
9. Larose JH, Gay BB Jr. Metatropic dwarfism. Am J Roentgenol Radium Ther Nucl Med 1969; 106: 156-61.
PubMed
10. Jenkins P, et al. Metatropic dwarfism. Br J Radiol 1970; 43: 561-5.
PubMed
11. Rimoin DL, et al. Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias. Clin Orthop Relat Res 1976; (114): 70-82.
PubMed
12. Shohat M, et al. Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia. J Pediatr 1989; 114: 239-43
 
13. Manouvrier-Hanu S, et al. Prenatal diagnosis of metatropic dwarfism. Prenat Diagn 1995; 15: 753-6.
PubMed
P.141 掲載の参考文献
1. Kniest W. Zur Abgrenzung der Dysostosis enchondralis von der Chondrodystrophie. Z Kinderheilk 1952; 70: 633-40.
 
2. 西村 玄. II型コラーゲン異常症-概説. 伊藤文之ほか編. 目でみる骨系統疾患2004. 小児内科2004; 36(増刊号): 106-9.
 
3. 安井夏生. コラーゲン変異遺伝子. 小児内科1998; 30: 403-8.
 
4. Wilkin DJ, et al. Small deletions in the type II collagen triple helix produce Kniest dysplasia. Am J Med Genet 1999; 85: 105-12.
PubMed
5. Siggers DC, et al. The Kniest syndrome. Birth Defects 1974; 10: 193-208.
 
6. Kozic S, et al. Kniest dysplasia: Patient's growth progression and development-Evolution of abnormalities, 30 year follow up.Acta Med Okayama 1997; 51: 285-94.
 
7. Spranger JW. Kniest disease. In: Bergsma D, editor. Skeletal Dysplasias. Birth Defects Original Article Series. Vol X. No12. New York : Alan R Liss for the National Foundation-March of Dimes;1974. p.50-6.
 
8. Maumenee IH, Traboulsi EI. The ocular findings in Kniest dysplasia. Am J Ophthalmol 1985; 100: 155-60.
PubMed
9. 西村 玄. Family of Kniest-Stickler dysplasia. 骨系統疾患X線アトラス-遺伝性骨疾患の鑑別診断. 東京: 医学書院; 1993. p.52-9.
 
10. Gilbert-Barnes E, et al. Kniest dysplasia: Radiologic, histopathological, and scanning electronmicroscopic findings. Am J Med Genet 1996; 63: 34-45.
PubMed
11. Sayli U, Brooker AF Jr. Kniest disease and total joint replacement for functional salvage. Adv Orthop Surg 1989; 13: 85-7.
 
12. Yokoyama T, et al. A case of Kniest dysplasia with retinal detachment and the mutation analysis. Am J Ophthalmol 2003; 136: 1186-8.
 
13. Bromley B, et al. The prenatal sonographic features of Kniest synderome. J Ultrasound Med 1991; 10: 705-7.
 
P.144 掲載の参考文献
1. Spranger JW, et al. Ellis-van Creveld syndrome. In: Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development. 2nd edition. New York; Oxford Univ Press; 2002. p.130-5.
 
2. Ruiz-Perez V, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet 2000; 24: 283-6.
 
3. Takamine Y, et al. Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes. Am J Med Genet A 2004; 130: 96-7.
PubMed
4. Galdzicka M, et al. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet 2002; 77: 291-5.
PubMed
5. Ruiz-Perez V, et al. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet 2003; 72: 728-32.
 

6章 四肢が長くなる疾患および酵素欠損による蓄積性疾患

P.152 掲載の参考文献
1. Marfan AB. Un cas de deformation congenitale des quatre membres, plus prononcee aux extremites, caracterisee par l'allongment des os avec un certain degr? d'amincissement. Bull Mem Soc Med Hop Paris 1896; 13: 220-6.
 
2. Mores RP, et al. Diagnosis and management of infantile Marfan syndrome. Pediatrics 1990; 86: 888-95.
 
3. Edwards RH. Congenital Marfan syndrome. Birth Defects 1975; 11: 329-31.
PubMed
4. Gray JR, et al. Marfan syndrome. J Med Genet 1996; 33: 403-8.
PubMed
5. Hollister DE, et al. Immunohistological abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N Engl J Med 1990; 323: 152-9.
 
6. Godfrey M, et al. Abnormal morphology of fibrillin microfibrils in fibroblast cultures from neonatal Marfan syndrome. Am J Pathol 1995; 146: 1414-21.
PubMed
7. Kainulainen K, et al. Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med 1990; 323: 935-9.
PubMed
8. Magenis R, et al. Localization of the fibrillin(FBN)gene to chromosome 15, band q21. 1. Genomics 1991; 11: 346-51.
PubMed
9. Dietz HC, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352: 337-9.
PubMed
10. Kainulainen K, et al. Mutation in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet 1994; 6: 64-9.
PubMed
11. Wang M, et al. Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. Hum Genet 1995; 4: 607-13.
PubMed
12. Mizuguchi T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004; 36: 855-60.
PubMed
13. Neptune ER, et al. Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003; 33: 407-11.
 
14. De Paepe AD, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62: 417-26.
 
15. Gott VL, et al. Replacement of the aortic root in patients with Marfan's syndrome. N Engl J Med 1999; 340: 1307-13.
PubMed
16. David E, Feindel CM. An aortic valve-sparing operation for patients with aortic incompetence and aneurysm of the ascending aorta. J Thorac Cardiovasc Surg 1992; 103: 617-21.
 
17. Sarsam M, Yacou M. Remodeling of the aortic valve anulus. J Thorac Cardiovasc Surg 1993; 105: 435-8.
 
18. Murdoch JL, et al. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med 1972; 286: 804-8.
PubMed
19. Finkbohner R, et al. Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation 1995; 91: 728-33.
PubMed
20. Groenink M, et al. Survival and complication free survival in Marfan's syndrome : Implications of current guidelines. Heart 1999; 82: 499-504.
PubMed
21. Gray JR, et al. Life expectancy in British Marfan syndrome populations. Clin Genet 1998; 54: 124-8.
PubMed
P.158 掲載の参考文献
1. 大浦敏博ほか. 新生児マススクリーニング対象疾患の見直された治療法: 3.ホモシスチン尿症の治療. 小児科2001; 42: 1876-82.
 
2. 大竹 明. メチルマロン酸血症. 小児内科 2003; 35: 367-72.
 
3. Fowler B. Homocysteine disorders : Rare disease or common risk factors. 日本先天代謝異常学会雑誌1999; 15: 1-11.
 
4. 伊藤道徳. ホモシスチン尿症患者におけるシスタチオニンβ合成酵素阻害遺伝子変異. 日本マス・スクリーニング学会誌2001; 11: 71-5.
 
5. 伊藤道徳. 先天性代謝異常: 5.ホモシスチン尿症. 小児内科2003;35 : 327-32.
 
6. 衛藤義勝. 3. メチオニン代謝異常症 a.ホモシスチン尿症. 白木和夫, 前川喜平 編. 小児科学. 東京: 医学書院; 1997. p.263-4.
 
7. HOMOCYSTINURIA cystathione beta-synthase deficiency. In: OMIM (Online Mendelian Inheritance in Man). Johns Hopkins University;236200 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM http://www.ncbi.nlm.nih.gov/entrez/dispomim. cgi?id=236200
 
8. 稲谷 大. 5. 続発性緑内障 K. 水晶体亜脱臼に伴う緑内障. 眼科2002; 44: 1684-8.
 
9. 田中弘之. 続発性骨粗鬆症II-疾患と骨粗鬆症: 5. 先天性疾患. Bone 2004; 18: 321-6.
 
10. 塚本和久. ホモシステイン. 臨床検査2004; 48(増刊号): 1329-35.
 
11. 大和田操. 新生児マススクリーニング検査. 小児科診療2005; 5: 931-6.
 
12. Topaloglu AK, et al. Influence of metabolic control on growth in homocystinuria due to cystathione β-synthase deficiency. Pediatr Res 2001; 49: 796-8.
 
13. Brenton DP, et al. Homocystinuria and Marfan's syndrome. A comparison. J Bone Joint Surg Br 1972; 54: 277-98.
PubMed
14. 荒島真一郎. 6.含硫アミノ酸代謝異常症. 小林 登ほか編. 新小児医学大系7C. 出生前小児科学III. 東京: 中山書店; 1985. p.390-6.
 
15. 中村了正. 1.ホモシスチン尿症. 小林 登ほか編. 新小児医学大系15B. 小児運動器病学II. 東京: 中山書店; 1986. p.273-4.
 
16. 多田哲也ほか. ホモシスチン尿症の治療指針の一部改正. 日本小児科学会雑誌1996; 100: 1289.
 
17. 大和田操. フェニルケトン尿症およびホモシスチン尿症の治療指針改定について. 小児科1996; 37: 1503-9.
 
18. 土田英人ほか. 酵素欠損症(アミノ酸代謝障害, 脂質代謝障害). 別冊 日本臨牀 領域別症候群シリーズ40. 精神医学症候群III. 大阪: 日本臨牀社; 2003. p.383-6.
 
P.162 掲載の参考文献
1. Morquio L. Sur une forme de dystrophie osseuse familiale. Bull Soc Pediat Paris 1929; 27: 145-52.
 
2. Brailsford JF. Chondro-osteo-dystrophy: Roentgenographic and clinical features of child with dislocation of vertebrae. Am J Surg 1929; 7: 404-10.
 
3. Lowry RB, et al. An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet 1990; 85: 389-90.
PubMed
4. Nelson J, et al. Incidence of the mucopolysaccharidoses in western Australia. Am J Med Genet A 2003; 123: 310-3.
 
5. Tomatsu S, et al. Mucopolysaccharidosis type IVA: Characterization and chromosomal localization of N-acetylgalactosamine-6-sulfate sulfatase gene and genetic heterogeneity〔Abstract〕. Am J Hum Genet 1992; 51(Suppl): A178.
 
6. Bunge S, et al. Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. Hum Mutat 1997; 10: 223-32.
 
7. Oshima A, et al. Human beta-galactosidase gene mutations in Morquio B disease. Am J Hum Genet 1991; 49: 1091-3.
PubMed
8. DiFerrante NM, et al. Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses. Science 1978; 199: 79-81.
PubMed
9. Arbisser AI, et al. Morquio-like syndrome with beta-galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IV B. Am J Med Genet 1977; 1: 195-205.
PubMed
10. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, et al, editors. The Metabolic and Molecular Basis of Inherited Disease. 7th edition. New York: McGraw-Hill; 1995. p.2465-94.
 
11. Beck M, et al. Heterogeneity of Morquio disease. Clin Genet 1986; 29: 325-31.
PubMed
12. Nelson J, et al. Clinical findings in 12 patients with MPS IV A (Morquio's disease): Further evidence for heterogeneity. Part I: Clinical and biochemical findings. Clin Genet 1988; 33: 111-20.
PubMed
13. Tomatsu S, et al. Identification of a common mutation in mucopolysaccharidosis IVA: Correlation among genotype, phenotype, and keratan sulfate. J Hum Genet 2004; 49: 490-4.
PubMed
14. Kelly TE. The mucopolysaccharidoses and mucolipidosis. Clin Orthop 1976; (114): 116-36.
PubMed
15. Northover H, et al. Mucopolysaccharidosis type IVA (Morquio syndrome): A clinical review. J Inherit Metab Dis 1996; 19: 357-65.
 
16. Mikles M, Stanton Rp.A review of Morquio syndrome. Am J Orthop 1997; 26: 533-40.
PubMed
17. Lipson SJ. Dysplasia of the odontoid process in Morquio's syndrome causing quadriparesis. J Bone Joint Surg Am 1977; 59: 340-4.
PubMed
18. Nelson J, Thomas PS. Clinical findings in 12 patients with MPS IV A (Morquio's disease): Further evidence for heterogeneity. Part III: Odontoid dysplasia. Clin Genet 1988; 33: 126-30.
PubMed
19. Hollister DW, et al. The Morquio syndrome (mucopolysaccharidosis IV): Morphologic and biochemical studies. Johns Hopkins Med J 1975; 137: 176-83.
PubMed
20. McClure J, et al. The histological and ultrastructural features of the epiphyseal plate in Morquio type A syndrome (mucopolysaccharidosisype IVA). Pathology 1986; 18: 217-21.
PubMed
21. Langer LO Jr, Carey LS. The roentgenographic features of the KS mucopolysaccharidosis of Morquio (Morquio-Brailsford's disease). Am J Roentgenol Radium Ther Nucl Med 1966; 97: 1-20.
 
22. Beck M, et al. Fetal presentation of Morquio disease type A. Prenat Diagn 1992; 12: 1019-29.
PubMed
23. de Waal Malefijt MC, et al. Total knee arthroplasty in patients with inherited dwarfism-A report of five knee replacements in two patients with Morquio's disease type A and one with spondylo-epiphyseal dysplasia. Arch Orthop Trauma Surg 2000; 120: 179-82.
PubMed
24. Ransford AO, et al. Occipito-atlanto-axial fusion in Morquio-Brailsford syndrome: A ten-year experience. J Bone Joint Surg Br 1996; 78: 307-13.
 
25. Gulati MS, Agin MA. Morquio syndrome: A rehabilitation perspective. J Spinal Cord Med 1996;19 : 12-6.
 
26. Dalvie S, et al. Mobile thoracolumbar gibbus in Morquio type A: The cause of paraparesis and its management. J Pediatr Orthop B 2001; 10: 328-30.
PubMed
P.171 掲載の参考文献
1. 祐川(早坂)和子, 折居忠夫. 遺伝性ムコ多糖症. 小児疾患診療のための病態生理. 第3版-2. 小児内科2003; 35 (増刊号): 483-7.
 
2. Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 1997; 101: 355-8.
PubMed
3. Poorthuis BJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999; 105: 151-6.
PubMed
4. Nelson J, et al. Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet A 2003; 123: 310-3.
 
5. Natowicz MR, et al. Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med 1996; 335: 1029-33.
PubMed
6. Neufeld EF, Muenzer J. The mucopoly-saccharidoses. In: Scriver CR, et al, editors. The Metabolic and Molecular Basis of Inherited Disease. 7th edition. New York: McGraw-Hill; 1995. p.2465-94.
 
7. Kelly TE. The mucopolysaccharidoses and mucolipidosis. Clin Orthop 1976; (114): 116-36.
PubMed
8. Matsui Y, et al. Scheie syndrome(MPS-IS)presented as bilateral trigger thumb. Pediatr Int 2003; 45: 91-2.
PubMed
9. Haddad FS, et al. Triggering in the mucopolysaccharidoses. J Pediatr Orthop B 1998; 7: 138-40.
PubMed
10. Van Heest AE, et al. Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders. J Hand Surg Am 1998; 23: 236-43.
PubMed
11. Musharbash A. Carpal tunnel syndrome in a 28-month-old child. Pediatr Neurosurg 2002; 37: 32-4.
 
12. Mut M, et al. Multilevel myelopathy in Maroteaux-Lamy syndrome and review of the literature. Clin Neurol Neurosurg 2005; 107: 230-5.
PubMed
13. Herring JA. Mucopolysaccharidoses. In: Tachdjian's Pediatric Orthopaedics. 3rd edition. Philadelphia: Saunders; 2002. p.1572-83.
 
14. Spranger JW, et al. Mucopolysaccharidosis I-H, I variants, II, III, IV, VI, VII. In: Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development. 2nd edition. New York: Oxford Univ Press; 2002. p.261-94.
 
15. 西村 玄. 骨系統疾患X線アトラス-遺伝性骨疾患の鑑別診断. 東京: 医学書院; 1993. p.18-25.
 
16. Thomas SL, et al. Hypoplasia of the odontoid with atlanto-axial subluxation in Hurler's syndrome. Pediatr Radiol 1985; 15: 353-4.
PubMed
17. Dickerman RD, et al. Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): A surgical dilemma. Spine 2004; 29: E92-4.
 
18. Davie SS, et al. Anterior instrumented fusion for thoracolumbar kyphosis in mucopolysaccharidosis. Spine 2001; 26: E539-41.
 
19. Odunusi E, et al. Genu valgum deformity in Hurler syndrome after hematopoietic stem cell transplantation : Correction by surgical intervention. J Pediatr Orthop 1999; 19: 270-4.
 
20. Masterson EL, et al. Hip dysplasia in Hurler's syndrome: Orthopaedic management after bone marrow transplantation. J Pediatr Orthop 1996; 16: 731-3.
PubMed
21. Muenzer J, Fisher A. Advances in the treatment of mucopolysaccharidosis type I. N Engl J Med 2004;350 : 1932-4.
PubMed
22. Field RE, et al. Bone-marrow transplantation in Hurler's syndrome. Effect on skeletal development. J Bone Joint Surg Br 1994; 76: 975-81.
PubMed
23. Souillet G, et al. Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant 2003; 31: 1105-17.
PubMed
24. Weinstein JS, et al. Musculoskeletal manifestations of Hurler syndrome: Long-term follow-up after bone marrow transplantation. J Pediatr Orthop 2004;24 : 97-101.
 
25. Pastores GM, Meere PA. Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). Curr Opin Rheumatol 2005; 17: 70-8.
PubMed
26. Hite SH, et al. Correction of odontoid dysplasia following bone-marrow transplantation and engraftment (in Hurler syndrome MPS 1H). Pediatr Radiol 2000; 30: 464-70.
PubMed
27. Kachur E, Del Maestro R. Mucopolysaccharidoses and spinal cord compression: Case report and review of the literature with implications of bone marrow transplantation. Neurosurgery 2000; 47: 223-8.
PubMed
28. Kanaji A, et al. Improvement of skeletal lesions in mice with mucopolysaccharidosis type VII by neonatal adenoviral gene transfer. Mol Ther 2003; 8: 718-25.
PubMed
29. Ashworth JL, et al. The ocular features of the mucopolysaccharidoses. Eye 2006; 20: 553-63.
PubMed
30. Simmons MA, et al. Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 2005; 69: 589-95.
PubMed
31. Muenzer J. The mucopolysaccharidoses: A heterogeneous group of disorders with variable pediatric presentations. J Pediatr 2004; 144(Suppl): S27-34.
 

7章 奇形性疾患

P.179 掲載の参考文献
1. Temtamy SA, McKusick VA. The several types of acrocephalosyndactyly: The ACS syndromes. In: Birth Defects Original Article Series. Vol. XIV. No. 3. The Genetics of Hand Malformations. New York : National Foundation-March of Dimes, Alan R Liss; 1978. p.328-47.
 
2. Cohen DM, et al. Acrocephalopolysyndactyly type II-Carpenter syndrome: Clinical spectrum and an attempt at unification with Goodman and Summitt syndromes. Am J Med Genet 1987; 28: 311-24.
 
3. Wilkie AOM, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995; 9: 165-72.
 
4. Blank CE. Apert's syndrome (a type of acrocephalosyndactyly): Observations on a British series of thirty-nine cases. Ann Hum Genet 1960; 24: 151-64.
PubMed
5. Upton J. Classification and pathologic anatomy of limb anomalies. Clin Plast Surg 1991; 18: 321-55.
PubMed
6. Kanauchi Y, et al. FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis. Congenit Anom (Kyoto)2003; 43: 302-5.
 
7. 川目 裕ほか. Apert 症候群. 小児内科1998; 30: 365-9.
 
8. Cohen MM Jr, Kreiborg S. Hands and feet in the Apert syndrome. Am J Med Genet 1995; 57: 82-96.
PubMed
9. Hoover GH, et al. The hand and Apert's syndrome. J Bone Joint Surg Am 1970; 52: 878-95.
PubMed
10. Nager FR, de Reynier Jp.Das Gehoerorgan bei den angeborenen Kopfmissbildungen. Pract Otorhinolaryng 1948; 10: 1-128.
 
11. Maroteaux P, Fonfria MC. Apparent Apert syndrome with polydactyly: Rare pleiotropic manifestation or new syndrome? Am J Med Genet 1987;28 : 153-8.
PubMed
12. Howard TD, et al. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 1997; 15: 36-41.
 
13. Paznekas WA, et al. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet 1998; 62: 1370-80.
PubMed
14. Bartsocas CS, et al. Acrocephalosyndactyly type 3: Chotzen's syndrome. J Pediatr 1970; 77: 267-72.
PubMed
15. Pfeiffer RA. Dominant erbliche Akrocephalosyndaktylie. Z Kinderheilk 1964; 90: 301-20.
PubMed
16. Oldridge M, et al. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Mol Genet 1997; 6: 137-43.
PubMed
17. Muenke M, et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 1994; 8: 269-74.
PubMed
18. 新橋 武ほか. Pfeiffer 症候群. 日形会誌1993; 13: 42-9.
 
19. Martsolf JT. An unusual type of acrocephalosyndactyly with broad thumbs and great toes. Am J Dis Child 1971; 121: 257-62.
PubMed
20. Summitt RL. Recessive acrocephalosyndactyly with normal intelligence. Birth Defects Orig Artic Ser 1969; V(3): 35-8.
 
21. Herrmann J, et al. Craniosynostosis and craniosynostosis syndromes. Rocky Mt Med J 1969; 66: 45-56.
PubMed
22. Noack M. Ein Beitrag zum krankheitsbild der Akrozephalosyndaktylie (Apert). Arch Kinderheilk 1959; 160: 168-71.
 
23. Temtamy S, McKusick VA. Synopsis of hand malformations with particular emphasis on genetic factors. Birth Defects Orig Artic Ser 1969; V(3): 125-84.
 
24. Temtamy SA. Carpenter's syndrome: Acrocephalopolysyndactyly. An autosomal recessive syndrome. J Pediatr 1966; 69: 111-20.
 
25. 大関 覚ほか. Carpenter 症候群の1例. 先天異常1984; 24: 257-8.
 
26. Sakati N, et al. A new syndrome with acrocephalopolydactyly, cardiac disease, and distinctive defects of the ear, skin and lower limbs. J Pediatr 1971; 79: 104-9.
 
27. Goodman RM, et al. Acrocephalopolysyndactyly type IV: A new genetic syndrome in 3 sibs. Clin Genet 1979; 15: 209-14
 
P.186 掲載の参考文献
1. Martin M. Sur un deplacement natural dela cla vicule. J Med Chir et Pharmacol 1765; 23: 456.
 
2. Scheuthauer G. Combination rudimentarer Schlusselbeine mit Anmalien des Schadels beim erwachsenen Menschen. Allg Wien Med Ztg 1871; 16: 293-5.
 
3. Marie P, Sainton p.Observation d'hydroce phalie hereditaire [pere et fils] par vice de developpement du crone et du cerveau. Bull Soc Med HOP Paris 1897; 14: 706.
 
4. 羽根田貞郎. Dysostosis Generalisata について. 日整会誌1963; 11: 382-93.
 
5. 橋本武雄. 新生児疾患アトラス. 鎖骨・頭蓋異骨症. Neonatal Care 1995; 8: 186-7.
 
6. 西村 玄. Cleidocranial dysplasia. 骨系統疾患X線アトラス-遺伝性骨疾患の鑑別診断. 東京: 医学書院; 1993. p.129-31.
 
7. 吉田丈俊ほか. わが国における鎖骨頭蓋異形成症の臨床的・遺伝的検討. 日本小児科学会雑誌2001; 105-4: 442-7.
 
8. van Wijnen AJ, et al. Nomenclature for Runt-related(RUNX)proteins. Oncogene 2004; 23: 4209-10.
PubMed
9. 黒澤健司. Cleidocranial dysplasia(鎖骨・頭蓋異形成症). 伊藤文之ほか編. 目でみる骨系統疾患. 小児内科2004; 36 (増刊号): 382-4.
 
10. 関本惠一. 21歯の埋伏歯を有する鎖骨頭蓋異骨症の1例. 日本口腔外科学会雑誌1975; 19: 966-72.
 
11. 布袋屋浩ほか. 母親及び娘に発症した鎖骨頭蓋骨異形成症. 埼玉小児医療センター医学誌1991; 8-2: 63-9.
 
12. 井澤淑郎ほか. Cleidocranial dysplasia 12例の臨床的/X線学的検討-特に鎖骨形成不全の種々相について. 日小整会誌 1992; 2: 164-71.
Medical*Online
13. Schirmer H. Zur trage d. Dysostosis cleidocranialis. Rtg-Praxis 1933; 5: 203-6.
 
14. Jarvis JL, Keats TE. Cleidocranial dysostosis: A review of 40 new case. J Roentgenol 1974; 121: 5-16.
 
P.188 掲載の参考文献
1. Goldberg MJ. The Dysmorphic Child: An Orthopedic Perspective. New York: Raven Press; 1987. p.109-17.
 
2. Butler MG, et al. Metacarpophalangeal pattern profile analysis in Brachmann-de Lange syndrome. Am J Med Genet 1993; 47: 1003-5.
PubMed
3. Braddock SR, et al. Radiological features in Brachmann-de Lange sndrome. Am J Med Genet 1993; 47: 1006-13.
 
4. Kline AD, et al. Growth manifestations in the Brachmann-de Lange syndrome. Am J Med Genet 1993; 47: 1042-9.
PubMed
5. 横山武志ほか. Cornelia de Lange 症候群患者に対する2回の麻酔経験. 麻酔2000; 49: 785-7.
 
P.193 掲載の参考文献
1. Larsen LJ, et al. Multiple congenital dislocations associated with characteristic facial abnormality. J Pediatr 1950; 37: 574-81.
PubMed
2. Latta RJ, et al. Larsen's syndrome: A skeletal dysplasia with multiple joint dislocations and unusual facies. J Pediatr 1971; 78: 291-8.
 
3. Gorlin RJ, et al. Syndromes of the Head and Neck. New York: Blakiston Division, McGraw-Hill; 1976.
 
4. Steel HH, Kohl EJ. Multiple congenital dislocations associated with other skeletal anomalies (Larsen's syndrome) in three siblings. J Bone Joint Surg Am 1972;54 : 75-82.
 
5. Becker R, et al. Clinical variability of Larsen syndrome: Diagnosis in a father after sonographic detection of a severely affected fetus. Clin Genet 2000; 57: 148-50.
 
6. Mostello D, et al. Recurrence and prenatal diagnosis of lethal Larsen syndrome. Am J Hum Genet 1989; 45 Suppl: A56.
 
7. 小池麒一郎ほか. Larsen 症候群の1例. 脳と発達1972; 4: 1-3.
 
8. 楊 福春ほか. Larsen 症候群2症例の側頭骨病理所見. 帝京医学雑誌1990; 13: 295-300.
 
9. Desbuquois G, et al. Nanism chondrodystrophique avec ossification anarchique et polymelormations chez deux soeurs. Arch Fr Pediatr 1966; 23; 573-87.
 
10. Micheli LJ, et al. Spinal instability in Larsen's syndrome. J Bone Joint Surg Am 1976; 58: 562-5.
 
P.196 掲載の参考文献
1. Little EM, et al. Congenital absence or delayed development of the patella. Lancet 1897; 2: 781.
 
2. McIntosh I, et al. Fine mapping of the nail-patella syndrome locus at 9q34. Am J Hum Genet 1997; 60: 133-42.
PubMed
3. Dreyer SD, et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 1998; 19: 47-50.
 
4. Vollrath D, et al. Loss of function mutations in the L1M homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet 1998; 7: 1091-8.
 
5. Hall CM. International nosology and classification of constitutional disorders of bone. Am J Med Genet 2002; 113: 65-77.
PubMed
6. Beguiristain JL, et al. Nail-patella syndrome: Long term evolution. J Pediatr Orthop B 2003; 12: 13-6.
PubMed
7. Niemeyer P, et al. Clinical, radiological and arthroscopical aspects in nail patella syndrome: Literature review based on an affected family. Orthopade 2006; 35: 197-203.
 
P.199 掲載の参考文献
1. Verloes A, et al. Fronto-otopalatodigital osteodysplasia: Clinical evidence for a sigle entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome type 1 and 2, and frontometaphyseal dysplasia. Am J Med Genet 2000; 90: 407-22.
 
2. Taybi H. Generalized skeletal dysplasia with multiple anomalies: A note on Pyle's disease. Am J Roentgenol Radium Ther Nucl Med 1962; 88: 450-7.
 
3. Robertson SP, et al. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 2003; 33: 487-91.
PubMed
4. Leonardi A, et al. Physical and functional interaction of filamin (actin-binding protein-280) and tumor necrosis factor receptorassociated factor 2. J Biol Chem 2000; 275: 271-8.
PubMed
5. Robertson S, et al. Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? : Observations in a fourgeneration kindred. Am J Med Genet 1997; 71: 341-7.
 
P.202 掲載の参考文献
1. Ferrante MI, et al. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet 2001; 68: 569-76.
PubMed
2. Thauvin-Robinet C, et al. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: A French and Belgian collaborative study. J Med Genet 2006; 43: 54-61.
PubMed
3. Munke M, et al. Oral-facial digital syndrome type VI (Varadi syndrome): Further clinical delineation. Am J Med Genet 1990; 35: 360-9
 
P.206 掲載の参考文献
1. 鶴田登代志. Tricho-rhino-phalangeal dysplasia. 先天性骨系統疾患・骨異形成症および異骨症. 東京: 金原出版; 1986. p.110-2.
 
2. 井澤淑郎ほか. 毛髪・鼻・指節異形成症. 山本吉蔵 編. 新図説臨床整形外科講座10. 骨系統疾患. 東京: メディカルビュー社; 1994. p.87-8.
 
3. Giedion A. Cone-shaped epiphysis of the hands and their diagnostic value : The tricho-rhino-phalangeal syndrome. Ann Radiol 1967; 10: 322-9.
PubMed
4. Hall CM. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 2002; 113: 65-77.
PubMed
5. Hall BD, et al. Langer-Giedion syndrome. Birth Defects Orig Artic Ser 1974; 10: 147-64.
PubMed
6. 加東定ほか. Tricho-rhino-phalangeal syndrome type III の1症例. 臨整外1997; 32: 299-302.
 
7. Niikawa N, Kamei T. The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III. Am J Med Genet 1986; 24: 759-60.
PubMed
8. 二井英二ほか. Tricho-rhino-phalangeal syndrome III型の母子例. 臨整外1999; 34: 949-52.
 
9. 大橋義一ほか. Langer-Giedion 症候群の1例. 整形外科1982; 33: 529-35.
 
10. Sugiura Y, et al. Tricho-rhino-phalangeal syndrome, report on three unrelated families. Jpn J Hum Genet 1976; 21: 13-22.
 
11. Sugiura Y. Tricho-rhino-phalangeal syndrome associated with Perthes-disease-like bone change and spondylolisthesis. Jpn J Hum Genet 1978; 23: 23-30.
 
12. 吉田修之ほか. ペルテス病を合併したTricho-rhino-phalangeal 症候群の1例. 整・災外1983; 26: 552-4.
 
P.209 掲載の参考文献
1. Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. Am J Dis Child 1963; 105: 588-608.
PubMed
2. Imaizumi K, Kuroki Y. Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13. 3;p13. 3). Am J Med Genet 1991; 38: 636-9.
PubMed
3. Petrij F, et al. Rubinstein-Taybi syndrome is caused by mutations in the transcriptional co-activator CBp.Nature 1995; 376: 348-51.
PubMed
4. Coupry I, et al. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J Med Genet 2002; 39: 415-21.
PubMed
5. Roelfsema JH, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome : Mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet 2005; 76: 572-80.
PubMed
6. Yamamoto T, et al. Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome. Am J Med Genet 2005; 135: 130-3.
 
7. 黒澤健司ほか. Rubinstein-Taybi 症候群の自然歴. 日本小児科学会雑誌1993; 97: 1442-8.
 

8章 骨密度が低下する疾患

P.223 掲載の参考文献
1. Sillence DO, et al. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979; 16: 101-6.
PubMed
2. Nogami H, et al. Defective association between collagen fibrils and proteoglycans in fragile bone of osteogenesis imperfecta. Clin Orthop 1988; (232): 284-91.
PubMed
3. Gloriux FH, et al. Type V osteogenesis imperfecta: A new form of brittle bone disease. J Bone Miner Res 2000; 15: 1650-8.
 
4. Gloriux FH, et al. Osteogenesis imperfecta type VI: A form of brittle bone disease with a mineralization defect. J Bone Miner Res 2002; 17: 30-8.
 
5. Ward LM, et al. Osteogenesis imperfecta type VII: An autosomal recessive form of brittle bone disease. Bone 2002; 31: 12-8.
PubMed
6. Vetter U, et al. Osteogenesis imperfecta: A clinical study of the first ten years of life. Calcif Tissue Int 1992; 50: 36-41.
PubMed
7. 星 学, 廣島和夫. 骨形成不全症における骨折頻度. 近畿小児整形外科1998; 11: 45-7.
 
8. 廣島和夫ほか. 骨形成不全症に見られる上肢変形とその治療. 日小整会誌1995; 4: 72-4.
 
9. Cropp GJ, Myers DN. Physiological evidence of hypermetabolism in osteogenesis imperfecta. Pediatrics 1972;49: 375-91.
PubMed
10. 坂本淳子ほか. 骨形成不全症の麻酔. 日本麻酔学会第49回大会, 福岡市, 2002年4 月.
 
11. Smith R. Idiopathic osteoporosis in the young. J Bone Joint Surg Br 1980;62 : 417-27.
 
12. Gloriux FH, et al. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 1998; 339: 947-52.
 
13. 廣島和夫. 骨形成不全症の治療-経皮的伸展性髄内釘挿入による長管骨骨折の治療. 日小整会誌2002; 11: 25-8.
 
14. 蒲生和重ほか. 骨形成不全症における上肢変形. 第76回日本整形外科学会(H15. 5月, 金沢). 日整会誌2003; 77: S548.
 
15. 廣島和夫. 骨形成不全症に対する分節骨切り術. 新OS NOW 26. 小児科下肢変形に対する手術療法. 東京: メジカルビュー社; 2005. p.142-8.
 
16. Paterson CR, et al. Life expectancy in osteogenesis imperfecta. BMJ 1996; 312: 351.
PubMed
17. McAllion SJ, et al. Causes of death in OI. J Clin Pathol 1996; 49: 627-30.
 
P.225 掲載の参考文献
1. Hall CM. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 2002; 113: 65-77.
PubMed
2. Hajdu N, Kauntze R. Cranioskeletal dysplasia. Br J Radiol 1948; 21: 42-8.
PubMed
3. Cheney WD. Acro-osteolysis. Am J Roentgenol Radium Ther Nucl Med 1965; 94: 595-607.
PubMed
4. Iwaya T, et al. Hajdu-Cheney syndrome. Arch Orthop Trauma Surg 1979; 95: 293-302.
PubMed
5. Elias AN, et al. Hereditary osteodysplasia with acro-osteolysis (the Hajdu-Cheney syndrome). Am J Med 1978; 65: 627-36.
PubMed
6. Udell J, et al. Idiopathic familial acroosteolysis: Histomorphometric study of bone and literature review of the Hajdu-Cheney syndrome. Arthritis Rheum 1986; 29: 1032-8.
PubMed
7. Brown DM, et al. The acro-osteolysis syndrome: Morphologic and biochemical studies. J Pediatr 1976; 88: 573-80.
PubMed
8. Brennan AM, Pauli RM. Hajdu-Cheney syndrome: Evolution of phenotype and clinical problems. Am J Med Genet 2001; 100: 292-310.
PubMed
9. Kaplan P, et al. Cystic kidney disease in Hajdu-Cheney syndrome. Am J Med Genet 1995; 56: 25-30.
PubMed
P.227 掲載の参考文献
1. Brenton DP, Dent GE. Idiopathic juvenile osteoporosis. In: Bicket JH, Stern J, editors. Inborn Errors of Calcium and Bone Metabolism. Baltimore: University Park Press; 1995. p.223-38.
 
2. Rauch F, et al. The bone formation defect in idiopathic juvenile osteoporosis is surface-spcific. Bone 2002; 31: 85-9.
 
3. Dawson PA, et al. Extension of phenotype associated with structural mutation in type I collagen: Siblings with juvenile osteoporosis have an α(2 I)Gly436→Arg substitution. J Bone Miner Res 1999; 14: 449-55.
 
4. 大野一幸ほか. 少年期に診断された骨形成不全症の1例. 臨整外2004; 39: 1471-6.
 
5. Melchior R, et al. Effective parenteral clodronate treatment of a child with severe juvenile idiopathic osteoporosis. Eur J Pediatr 2002; 164: 22-7.
 

9章 骨密度が増加する疾患

P.233 掲載の参考文献
1. Albers-Schonberg H. Rontgenbilder einer seltenen, Knochenerkrankung. Munch Med Wochenschr 1904; 51: 365-8.
 
2. Whyte Mp.Osteopetrosis. In: Royce PM, Steinmann B, editors. Connective Tissue and Its Heritable Disorders. New York: Wiley-Liss; 2002. p.789-807.
 
3. Karschner RG. Osteopetrosis. Am J Roentgenol 1926; 16: 405-19.
 
4. Whyte Mp.Sclerosing bone disorders. In: Favus MJ, editor. Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. 5th edition. Washington DC: The American Society for Bone and Mineral Research; 2003. p.449-66.
 
5. Whyte MP, et al. Bisphosphonate-induced osteopetrosis. N Engl J Med 2003; 349: 457-63.
PubMed
6. Loria-Cortes R, et al. Osteopetrosis in children: A report of 26 cases. J Pediatr 1977; 91: 43-7.
 
7. Sly WS, et al. Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci USA 1983; 80: 2752-6.
PubMed
8. Whyte MP, et al. Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. Am J Med 1980; 69: 64-74.
PubMed
9. Lajeunesse D, et al. Demonstration of an osteoblast defect in two cases of human malignant osteopetrosis: Correction of the phenotype after bone marrow transplant. J Clin Invest 1996; 98: 1835-42.
PubMed
10. Jagadha V, et al. The association of infantile osteopetrosis and neuronal storage disease in two brothers. Acta Neuropathol (Berl) 1988; 75: 233-40.
PubMed
11. Mills BG, et al. Osteoclasts in human osteopetrosis contain viral-nucleocapsid-like nuclear inclusions. J Bone Miner Res 1988; 3: 101-6.
PubMed
12. Sobacchi C, et al. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 2001; 10: 1767-73.
PubMed
13. Whyte MP, et al. Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders. J Bone Miner Res 1996; 11: 1438-43.
PubMed
14. Kaplan FS, et al. Successful treatment of infantile malignant osteopetrosis by bone-marrow transplantation: A case report. J Bone Joint Surg Am 1988; 70: 617-23.
PubMed
15. Schulz AS, et al. HLA-haploidentical blood progenitor cell transplantation in osteopetrosis. Blood 2002; 99: 3458-60.
PubMed
16. Orchard PJ, et al. Haploidentical bone marrow transplantation for osteopetrosis. Am J Pediatr Hematol Oncol 1987; 9: 335-40.
PubMed
17. Key LL Jr, et al. Long-term treatment of osteopetrosis with recombinant human interferon gamma. N Engl J Med 1995; 332: 1594-9.
PubMed
18. Iacobini M, et al. Apparent cure of a newborn with malignant osteopetrosis using prednisone therapy. J Bone Miner Res 2001; 16: 2356-60.
PubMed
19. Wang ZQ, et al. Bone and haematopoietic defects in mice lacking c-fos. Nature 1992; 360: 741-5.
PubMed
20. Johnson RS, et al. Pleiotropic effects of a null mutation in the c-fos proto-oncogene. Cell 1992; 71: 577-86.
 
21. Soriano P, et al. Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice. Cell 1991; 64: 693-702.
 
22. Horne WC, et al. Osteoclasts express high levels of pp60c-src in association with intracellular membranes. J Cell Biol 1992; 119: 1003-13.
PubMed
P.240 掲載の参考文献
1. Maroteaux P, Lamy M. La pycnodysostose. Presse Med 1962; 70: 999-1002.
 
2. Elmore SM. Pycnodysostosis: A review. J Bone Joint Surg Am 1967; 49: 153-62.
 
3. Sugiura Y, et al. Pycnodysostosis in Japan: Report of six cases and a review of Japaneses literature. Birth Defects Orig Artic Ser 1974; 10: 78-98.
 
4. Gelb BD, et al. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 1996; 273: 1236-8.
PubMed
5. Ho N, et al. Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein. J Bone Miner Res 1999; 14: 1649-53.
 
6. Hou WS, et al. Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. J Clin Invest 1999; 103: 731-8.
PubMed
7. Fujita Y, et al. Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization. J Clin Erdocrinol Metab 2000; 85: 425-31.
 
8. Meredith S, et al. Pycnodysostosis. A clinical, pathological, and ultramicroscopic study of a case. J Bone Joint Surg Am 1978; 60: 1122-7.
 
9. Fratzl-Zelman N, et al. Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. J Clin Endocrinol Metab 2004; 89: 1538-47.
PubMed
10. Emami-Ahari Z, et al. Pycnodysostosis. J Bone Joint Surg Br 1969; 51: 307-12.
PubMed
11. Roth VG. Pycnodysostosis presenting with bilateral subtrachanteric fractures: Case report. Clin Orthop Relat Res 1976; (117): 247-53.
PubMed
12. Lyritis G, et al. Orthopaedic problems in patients with pycnodysostosis. Prog Clin Biol Res 1982; 104: 199-204.
PubMed
13. Edelson JG, et al. Pycnodysostosis. Orthopedic aspects with a description of 14 new cases. Clin Orthop Relat Res 1992; (280): 263-76.
PubMed
14. Taylor MM, et al. Pycnodysostosis. A case report. J Bone Joint Surg Am 1978; 60: 1128-30.
PubMed
15. Kundu ZS, et al. Subtrochanteric fracture managed by intramedullary nail in a patient with pycnodysostosis. Joint Bone Spine 2004; 71: 154-6.
 
16. Nakase T, et al. Surgical outcomes after treatment of fractures in femur and tibia in pycnodysostosis. Arch Orthop Trauma Surg 2007; 127: 161-5.
PubMed
17. Soliman AT, et al. Pycnodysostosis: Clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy. Metabolism 2001; 50: 905-11.
PubMed
P.243 掲載の参考文献
1. 中島英治. Metaphyseal dysplasia(MCD). 骨幹端異形成症-概説. 伊藤文之ほか編. 目でみる骨系統疾患2004. 小児内科2004; 36(増刊号): 144-5.
 
2. Hall CM. International nosology and classification of constitutional disorders of bone(2001). Am J Med Genet 2002; 113: 65-77.
PubMed
3. 佐々木悟郎, 長谷川奉延. Metaphyseal dysplasia Jansen type. 骨幹端異形成症Jansen型. 伊藤文之ほか編. 目でみる骨系統疾患2004. 小児内科2004; 36(増刊号): 374-5.
 
4. Ikegawa S, et al. Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. Am J Hum Genet 1998; 63: 1659-62.
PubMed
5. Savarirayan R, et al. Schmid type metaphyseal chondrodysplasia: A spondylometaphyseal dysplasia identical to the "Japanese" type. Pediatr Radiol 2000; 30: 460-3.
 
6. 有賀 正, 崎山幸雄. Adenosine deaminase(ADA)deficiency. アデノシンデアミナーゼ欠損症. 伊藤文之ほか編. 目でみる骨系統疾患2004. 小児内科2004; 36(増刊号): 378-81.
 
7. Desai SS, Johnson LO. Long-term results of valgus osteotomy for congenital coxa vara. Clin Orthop 1993; (294): 204-10.
PubMed
8. Carroll K, et al. Coxa vara: Surgical outcomes of valgus osteotomies. J Pediatr Orthop 1997; 17: 220-4.
PubMed
9. 和田晃房ほか. 骨系統疾患の内反股変形に対する大腿骨外反骨切り術の成績. 第16回日本整形外科学会骨系統疾患研究会記録集2005; 16: 32-3.
 
P.247 掲載の参考文献
1. Cockayne EA. Case for diagnosis. Proc Roy Soc Med 1920; 13: 132-6.
PubMed
2. Camurati M. Di uno rano caso di ostite simmetrica ereditaria degliati inferiori. Chir Organi Mov 1922;6 : 662-5.
 
3. Engelmann G. Ein Fall von Osteopathia hyperostotica (sclerotisans) multiplex infantilis. Fortschr Geb Rontgenstr Nuklearmed 1929; 39: 132-6.
 
4. Makita Y, et al. Intrafamilial phenotypic variability in Engelmann disease (ED): Are ED and Ribbing disease the same entity? Am J Med Genet 2000; 91: 153-6.
PubMed
5. Ghadami M, et al. Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13. 1-q13. 3. Am J Hum Genet 2000; 66: 143-7.
PubMed
6. Kinoshita A, et al. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet 2000; 26: 19-20.
 
7. Janssens K, et al. Mutations in the gene encoding the latency-associated of TGF-β1 cause Camurati-Engelmann disease. Nat Genet 2000; 26: 273-5.
 
8. Kinoshita A, et al. TGFB1 mutations in four families with Camurati-Engelmann disease: Confirmation of independently arising LAP-domain-specific mutation. Am J Med Genet A 2004; 127: 104-7.
 
9. Wallace SE, et al. Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): Report of a four-generation pedigree, identification of mutation in TGFB1, and review. Am J Med Genet A 2004; 129: 235-47.
 
10. Janssens K, et al. Camurati-Engelmann disease: Review of the clinical radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet 2006; 43: 1-11.
PubMed
11. Saito T, et al. Domain-specific mutations of a transforming growth factor(TGF)-β1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-β1. J Biol Chem 2001; 276: 11469-72.
 
12. Janssens K, et al. Transforming growth factor-β1 mutation in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. J Biol Chem 2003; 278: 7718-24.
 
13. McGowan NW, et al. A mutaion affecting the latency-associated peptide of TGFβ1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. J Clin Endocrinol Metab 2003; 88: 3321-6.
 
14. Yoshioka H, et al. Muscular changes in Engelmann's disease. Arch Dis Child 1980; 55: 716-9.
PubMed
15. Naveh Y, et al. Muscle involvement in progressive diaphyseal dysplasia. Pediatrics 1985; 76: 944-9.
PubMed
16. 糸数直哉ほか. 神経筋疾患が疑われたEngelmann 病の1例-臨床経過と筋病理所見. 小児科診療1995; 58: 1101-4.
 
17. Kumar B, et al. Progressive diaphyseal dysplasia (Engelmann disease): Scintigraphic radiographic clinical correlations. Radiology 1981; 140: 87-92.
PubMed
18. Inaoka T, et al. Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Engelmann disease). Clin Nucl Med 2001; 26: 680-2.
 
19. Naveh Y, et al. Progressive diaphyseal dysplasia: Evaluation of corticosteroid therapy. Pediatrics 1985; 75: 321-3.
PubMed
20. Heymans O, et al. Camurati-Engelmann disease: Effects of corticosteroids. Acta Clin Belg 1998; 53: 189-92.
PubMed
21. Bas F, et al. Deflacort treatment in progressive diaphyseal dysplasia (Camurati-Engelmann disease). J Paediatr Child Health 1999; 35: 401-5.
PubMed
22. Cherie-Ligniere G, et al. Pamidronate in the treatment of progressive diaphyseal dysplasia (Camurati-Engelmann disease). Clin Exp Rheumatol 1999; 17: 264.
PubMed
23. Castro GR, et al. Camurati-Engelmann disease: Failure of response to bisphosphonates: Report of two cases. Clin Rheumatol 2005; 24: 398-401.
PubMed
24. De Vits A, et al. Progressive diaphyseal dysplasia (Camurati-Engelmann disease): Inprovement of clinical signs and of bone scintigraphy during pregnancy. Clin Nucl Med 1994; 19: 104-7.
 
25. Applegate LJ, et al. MR of multiple cranial neuropathies in a patient with Camurati-Engelmann disease: Case report. AJNR Am J Neuroradiol 1991; 12 557-9.
 
26. Wright M, et al. Papilloedema, a complication of progressive diaphyseal dysplasia: A case reports. Br J Ophthalmol 1998; 82: 1042-8.
PubMed
27. Hanson W, Parnes LS. Vestibular nerve compression in Camurati-Engelmann disease. Ann Otol Rhinol Laryngol 1995; 104: 823-5.
PubMed
28. Simpson RK Jr, et al. Fatal cerebellar herniation secondary Camurati-Engelmann disease. J Neurol Neurosurg Psychiatry 1988; 51: 1349-52.
PubMed
29. Mocco J, et al. Aggressive cranial vault decompression for cranial hyperostosis: Technical case report of two cases. Neurosurgery 2005; 57(1 Suppl): E212
 
30. Tibesar RJ, et al. Internal auditory canal decompression and cochlear implantation in Camurati-Engelmann disease. Otolaryngol Head Neck Surg 2004; 131: 1004-6.
PubMed
P.252 掲載の参考文献
1. Halliday J. Rare case of bone dystrophy. Br J Surg 1949; 37: 52-63.
PubMed
2. Nurnberg P, et al. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet 2001; 28: 37-41.
PubMed
3. Iughetti P, et al. Mapping of the autosomal recessive(AR)craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. Am J Med Genet 2000; 95: 482-91.
PubMed
4. Carnevale A, et al. Autosomal dominant craniometaphyseal dysplasia: Clinical variability. Clin Genet 1983; 23: 17-22.
PubMed
5. Yamada H, et al. Cervical spinal deformity in craniometaphyseal dysplasia. Surg Neurol 1987; 27: 284-90.
PubMed
6. Richards A, et al. Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management. J Laryngol Otol 1996; 110: 328-38.
PubMed
P.254 掲載の参考文献
1. Spranger JW, et al. Osteopathia striata with cranial sclerosis. In: Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development. New York: Oxford Univ Press; 2002. p.486-9.
 
2. Horan FT, Beighton PH. Osteopathia striata with cranial sclerosis: An autosomal dominant entity. Clin Genet 1978; 13: 201-6.
PubMed
3. Rott HD, et al. Multiple malformations in a male and maternal osteopathia striata with cranial sclerosis (OSCS). Genet Counsel 2003; 14: 281-8.
 
4. Whyte MP, et al. Mixed-sclerosing-bone-dystrophy: Report of a case and review of the literature. Skeletal Radiol 1981: 6: 95-102.
PubMed
P.257 掲載の参考文献
1. Benli IT, et al. Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br 1992; 74: 504-6.
PubMed
2. Albers-Schonberg H. Eine seltene, bisher nicht bekannte Strukturanomalie des Skelettes. Rofo 1915-1916; 23: 1747.
 
3. Ledoux-Lebard R, et al. L'osteopoecilie: Forme nouvelle d'osteite condensante generalisee sans symptomes cliniques. J Radiol Electrol Med Nucl 1916-1917; 2: 1334.
 
4. Lagier R, et al. Osteopoikilosis: A radiological and pathological study. Skeletal Radiol 1984; 11: 161-8.
PubMed
5. Hellemans J, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet 2004; 36: 1213-8.
PubMed
6. Verbov J. Buschke-Ollendorff syndrome (disseminated dermatofibrosis with osteopoikilosis). Br J Dermatol 1977; 96: 87-90.
PubMed
7. Whyte MP, et al. 99mTc-pyrophosphate bone imaging in osteopoikilosis, osteopathia striata, and melorheostosis. Radiology 1978; 127: 439-43.
PubMed
8. Walker GF. Mixed sclerosing bone dystrophies: Two case reports. J Bone Joint Surg Br 1964; 46: 546-52.
PubMed
9. Kessler HB, et al. Vascular anomalies in association with osteodystrophies-A spectrum. Skeletal Radiol 1983; 10: 95-101.
PubMed
P.261 掲載の参考文献
1. Wynne-Davies R, et al. Melorheostosis. In: Atlas of Skeletal Dysplasias. New York: Churchill Livingstone; 1985. p.508-11.
 
2. Murray MO, et al. Melorheostosis and the sclerotomes: A radiological correlations. Skeletal Radiol 1979; 4: 57-71.
 
3. Thapa N, et al. Beta ig-h3 mediates osteoblast adhesion and inhibits differentiation. Bone 2005; 36: 232-42.
PubMed
4. Graham LE, et al. Melorheostosis-An unusual cause of amputation. Prosthet Orthot Int 2005; 29: 83-6.
PubMed
5. Robertson PA, et al. Painful lumbosacral melorheostosis treated by fusion. Spine 2003; 28: E234-8.
PubMed
6. McCarthy M, et al. Melorheostosis of the tenth and eleventh thoracic vertebrae crossing the facet joint: A rare cause of back pain. Skeletal Radiol 2004; 33: 283-6.
PubMed
7. Judkiewicz AM, et al. Advanced imaging of melorheostosis with emphasis on MRI. Skeletal Radiol 2001; 30: 447-53.
PubMed
8. Hoshi K, et al. Histopathological characterization of melorheostosis. Orthopedics 2001; 24: 273-7.
PubMed
9. Donath J, et al. Atypical form of active melorheostosis and its treatment with bisphosphonate. Skeletal Radiol 2002; 31: 709-13.
PubMed
10. Bostman OM, et al. Osteosarcoma arising in a melorheostotic femur: A case report. J Bone Joint Surg Am 1987; 69: 1232-7.
 
11. Brennan DD, et al. Osteosarcoma arising in a femur with melorheostosis and osteopathia striata. Skeletal Radiol 2002; 31: 471-4.
 
P.264 掲載の参考文献
1. Friedreich N. Hyperostose des gesammten Skelettes. Arch Path Anat 1868; 43: 83-7.
 
2. Touraine A, et al. Un syndrome osteodermopathique: La pachydermie plicaturee avec pathyperiostosis des extremites. Presse Med 1935; 43: 1820-4.
 
3. Rimoin DL. Pachydermoperiostosis (idiopathic clubbing and periostosis): Genetic and physiologic considerations. N Engl J Med 1965; 272: 923-31.
PubMed
4. Mautucci CM, et al. Colchichine treatment in a case of pachydermoperiostosis with acroosteolysis. Rheumatol Int 1988; 8: 185-8.
 
P.272 掲載の参考文献
1. Paget J. On a form of chronic inflammation of bones (osteitis deformans). Med Chir Trans 1877; 60: 37-63.
PubMed
2. Hashimoto J, et al; Japanese Committee on Clinical Guidelines of Diagnosis and Treatment of Paget's Disease of Bone of the Japan Osteoporosis Society. Prevalence and clinical features of Paget's disease of bone in Japan. J Bone Miner Metab 2006; 24: 186-90.
PubMed
3. Takata S, et al. Guidelines for diagnosis and management of Paget's disease of bone in Japan. J Bone Miner Metab 2006; 24: 359-67.
PubMed
4. Siris ES. Paget's disease of bone. J Bone Miner Res 1998; 13: 1061-5.
PubMed
5. Barker DJ, et al. Paget's disease of bone in 14 British towns. Br Med J 1977; 1: 1181-3.
PubMed
6. Barker DJ, et al. Paget's disease of bone: The Lancashire focus. Br Med J 1980; 280: 1105-7.
PubMed
7. Gardner MJ, et al. Radiological prevalence of Paget's disease of bone in British migrants to Australia. Br Med J 1978; 1: 1655-7.
PubMed
8. Guyer PB, Chamberlain AT. Paget's disease of bone in two American cities. Br Med J 1980; 280: 985.
PubMed
9. Barker DJ. The epidemiology of Paget's disease of bone. Br Med Bull 1984; 40: 396-400.
PubMed
10. Renier JC, et al. Current prevalence of Paget's disease of bone in a region of France (Anjou). Rev Rheum Engl Ed 1995; 62: 571-5.
 
11. Ziegler R, et al. Paget's disease of bone in West Germany. Prevalence and distribution. Clin Orthop 1985; (194): 199-204.
PubMed
12. Altman RD, et al. Prevalence of pelvic Paget's disease of bone in the United States. J Bone Miner Res 2000; 15: 461-5.
PubMed
13. The Management of Paget's Disease of Bone. An Educational Outreach Project of The Paget Foundation for Paget's Disease of Bone and Related Disorders and NIH Osteoporosis and Related Bone Diseases-National Resource Center.
 
14. Barker DJ. The epidemiology of Paget's disease. Metab Bone Dis Relat Res 1981; 3: 231-3.
PubMed
15. Morales-Piga AA, et al. Frequency and characteristics of familial aggregation of Paget's disease of bone. J Bone Miner Res 1995; 10: 663-70.
PubMed
16. Siris ES, et al. Familial aggregation of Paget's disease of bone. J Bone Miner Res 1991; 6: 495-500.
PubMed
17. Sofaer JA, et al. A family study of Paget's disease of bone. J Epidemiol Community Health 1983; 37: 226-31.
PubMed
18. Rebel A, et al. Nuclear anomalies in osteoclasts in Paget's bone disease. Nouv Presse Med 1974; 3: 1299-301.
PubMed
19. Mills BG, Singer FR. Nuclear inclusions in Paget's disease of bone. Science 1976; 194: 201-2.
PubMed
20. Duran A, et al. The atypical PKC-interacting protein p62 is an important mediator of RANK-activated osteoclastogenesis. Dev Cell 2004; 6: 303-9.
PubMed
21. Rea SL, et al. A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-κB signaling and Paget's disease of bone with a severe phenotype. J Bone Miner Res 2006; 21: 1136-45.
 
22. Layfield R, Hocking LJ. SQSTM1 and Paget's disease of bone. Calcif Tissue Int 2004; 75: 347-57.
PubMed
23. Sparks AB, et al. Mutation screening of the TNFRSF11A gene encoding receptor activator of NFκB(RANK)in familial and sporadic Paget's disease of bone and osteosarcoma. Calcif Tissue Int 2001; 68: 151-5.
 
24. Daroszewska A, et al. Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin. J Bone Miner Res 2004; 19: 1506-11.
 
25. Middleton-Hardie C, et al. Deletion of aspartate 182 in OPG causes juvenile Paget's disease by impairing both protein secretion and binding to RANKL. J Bone Miner Res 2006; 21: 438-45.
 
26. Lucas GJ, et al. Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: Evidence for a founder effect in patients of British descent. J Bone Miner Res 2005; 20: 227-31.
PubMed
27. Dai RM, et al. Involvement of valosin-containing protein, an ATPase co-purified with IκBα and 26 S proteasome, in ubiquitinproteasome-mediated degradation of IκBα. J Biol Chem 1998; 273: 3562-73.
 
28. van Staa TP, et al. Incidence and natural history of Paget's disease of bone in England and Wales. J Bone Miner Res 2002; 17: 465-71.
 
29. Tiegs RD, et al. Long-term trends in the incidence of Paget's disease of bone. Bone 2000; 27: 423-7.
PubMed
30. Naiken VS. Did Beethoven have Paget's disease of bone? Ann Intern Med 1971; 74: 995-9.
PubMed
31. 中塚喜義. 骨Paget病の歴史. Clinical Calcium 2001; 11: 337-45.
 
32. Redden JF, et al. Management of fissure fractures in Paget's disease. Int Orthop 1981; 5: 103-6.
PubMed
33. Freydinger JE, et al. Sarcoma complicating Paget's disease of bone. A study of seven cases with report of one long survival after surgery. Arch Pathol 1963; 75: 496-500.
PubMed
34. Wick MR, et al. Sarcomas of bone complicating osteitis deformans (Paget's disease): Fifty years' experience. Am J Surg Pathol 1981; 5: 47-59.
PubMed
35. Greditzer HG 3rd, et al. Bone sarcomas in Paget disease. Radiology 1983; 146: 327-33.
PubMed
36. 日本骨粗鬆症学会 骨Paget病の診断と治療ガイドライン委員会 編. 骨パジェット病アトラス. Osteoporosis Japan 2005; 13(1): 別冊.
 
37. Reid IR, et al. Comparative responses of bone turnover markers to bisphosphonate therapy in Paget's disease of bone. Bone 2004; 35: 224-30.
PubMed
38. Selby PL, et al. Guidelines on the management of Paget's disease of bone. Bone 2002; 31: 366-73.
PubMed
39. Alvarez L, et al. Long-term biochemical response after bisphosphonate therapy in Paget's disease of bone. Proposed intervals for monitoring treatment. Rheumatology (Oxford) 2004; 43: 869-74.
PubMed
40. Alexandersen P, et al. Non-isomerized C-telopeptide fragments are highly sensitive markers for monitoring disease activity and treatment efficacy in Paget's disease of bone. J Bone Miner Res 2005; 20: 588-95.
PubMed
41. Bone HG, et al. The use of urinary N-telopeptides of type I collagen (NTX) to monitor response to treatmeent of Paget's disease of Bone. American Society for Bone and Mineral Research, 18th Annual Meeting, Seattle, WA, September 6-12, 1996.
 
42. Meunier PJ, et al. Skeletal distribution and biochemical parameters of Paget's disease. Clin Orthop 1987; (217): 37-44.
PubMed
43. Alvarez L, et al. Relationship between biochemical markers of bone turnover and bone scintigraphic indices in assessment of Paget's disease activity. Arthritis Rheum 1997; 40: 461-8.
PubMed
44. Harinck HI, et al. Relation between signs and symptoms in Paget's disease of bone. Q J Med 1986; 58: 133-51.
PubMed
45. Peris P, et al. Biochemical response to bisphosphonate therapy in pagetic patients with skull involvement. Calcif Tissue Int 2006; 79: 22-6.
PubMed
46. Eastell R. Biochemical markers of bone turnover in Paget's disease of bone. Bone 1999; 24(5 Suppl): 49S-50S.
 
47. Hosking DJ. Paget's disease of bone. Br Med J 1981; 283: 686-8.
 
48. Delmas PD, Meunier PJ. The management of Paget's disease of bone. N Engl J Med 1997; 336: 558-66.
PubMed
49. Langston AL, Ralston SH. Management of Paget's disease of bone. Rheumatology (Oxford) 2004; 43: 955-9.
PubMed
50. Altman RD, et al. Influence of disodium etidronate on clinical and laboratory manifestations of Paget's disease of bone (osteitisdeformans). N Engl J Med 1973; 289: 1379-84.
PubMed
51. Russel RG, et al. Diphosphonates in Paget's disease. Lancet 1974; 1: 894-8.
 
52. 吉川秀樹ほか. 骨Paget病と新規治療薬(ビスフォスフォネート)についての最近の動向. Osteoporosis Japan 2003; 11: 343-5.
 
53. Harrington KD. Surgical management of neoplastic complications of Paget's disease. J Bone Miner Res 1999; 14 Suppl 2: 45-8.
 
54. Kaplan FS. Surgical management of Paget's disease. J Bone Miner Res 1999; 14 Suppl 2: 34-8.
 
55. Smidt WR, et al. An algorithmic approach to the treatment of Paget's disease of the spine. Orthop Rev 1994; 23: 715-24.
 
56. Lewallen DG. Hip arthroplasty in patients with Paget's disease. Clin Orthop Relat Res 1999; (369): 243-50.
PubMed
57. Dove J. Complete fracture of the femur in Paget's disease of bone. J Bone Joint Surg Br 1980; 62: 12-7.
PubMed
58. Bradley CM, Nade S. Outcome after fractures of the femur in Paget's disease. Aust NZ J Surg 1992; 62: 39-44.
 
59. Louette L, et al. The Ilizarov external fixator for treatment of deformities in Paget's disease. Clin Orthop 1996; (323): 298-303.
PubMed
60. Hozack WJ, et al. Uncemented total hip arthroplasty in Paget's disease of the hip : A report of 5 cases with 5-year follow-up.J Arthroplasty 1999; 14: 872-6.
PubMed
61. Parvizi J, et al. Outcome of uncemented hip arthroplasty components in patients with Paget's disease. Clin Orthop Relat Res 2002; (403): 127-34.
PubMed

10章 全身的な骨代謝異常による疾患

P.279 掲載の参考文献
1. Whyte Mp.Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 1994; 15: 439-61.
PubMed
2. Mornet E. Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat 2000; 15: 309-15.
PubMed
3. Henthorn PS, et al. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci USA 1992; 89: 9924-8.
PubMed
4. Spentchian M, et al. Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene. Hum Mutat 2003; 22: 105-6.
PubMed
5. Ozono K, et al. Identification of novel mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. J Clin Endocrinol Metab 1996; 81: 4458-61.
 
6. Michigami T, et al. Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. Eur J Pediatr 2005; 164: 277-82.
PubMed
7. Zurutuza L, et al. Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet 1999; 8: 1039-46.
PubMed
8. Ho AM, et al. Role of the mouse ank gene in control of tissue calcification and arthritis. Science 2000; 289: 265-70.
PubMed
9. Nurnberg P, et al. Heterozygous mutation in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet 2001; 28: 37-41.
PubMed
10. Okawa A, et al. Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. Nat Genet 1998; 19: 271-3.
 
11. Nakamura I, et al. Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). Hum Genet 1999; 104: 492-7.
PubMed
12. Rutsch F, et al. Mutations in ENPP1 are associated with ‘idiopathic' infantile arterial calcification. Nat Genet 2003; 34: 379-81.
 
13. Barcia JP, et al. Infantile hypophosphatasia: Treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. J Pediatr 1997; 130: 825-8.
PubMed
14. Mochizuki H, et al. Severe hypercalcemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the TNSALP gene. Eur J Pediatr 2000; 159: 375-9.
 
15. Whyte MP, et al. Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res 2003; 18: 624-36.
PubMed
16. Fedde KN, et al. Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. J Bone Miner Res 1999; 14: 2015-26.
PubMed
17. Nunes ML, et al. Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. J Child Neurol 2002; 17: 222-4.
 
18. Litmanovitz, et al. Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. J Inherit Metab Dis 2002; 25: 35-40.
PubMed
P.282 掲載の参考文献
1. Bakwin H, Eiger MS. Fragile bones and macrocranium. J Pediatr 1956; 49: 558-64.
PubMed
2. Whyte MP, et al. Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J Med 2002; 247: 175-84.
 
3. Cundy T, et al. A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. Hum Mol Genet 2002; 11: 2119-27.
PubMed
4. Whyte MP, et al. Expansile skeletal hyperphosphatasia: A new familial metabolic bone disease. J Bone Miner Res 2000; 15: 2330-44.
PubMed
5. Whyte MP, Hughes AE. Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem dupulication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis. J Bone Miner Res 2002; 17: 26-9.
PubMed
6. Wada T, et al. RANKL-RANK signaling in osteoclastogenesis and bone disease. Trends Mol Med 2006; 12: 17-25.
PubMed
7. Chong B, et al. Idiopathic hyperphosphatasia and TNFRSF11B mutations: Relationships between phenotype and genotype. J Bone Miner Res 2003; 18: 2095-104.
PubMed
8. Hughes AE, et al. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet 2000; 24: 45-8.
PubMed
9. Cundy T, et al. Treatment of idiopathic hyperphosphatasia with intensive bisphosphonate therapy. J Bone Miner Res 2004; 19: 703-11.
 
10. Cundy T, et al. Recombinant osteoprotegerin for juvenile Paget's disease. N Engl J Med 2005; 353: 918-23
 
P.291 掲載の参考文献
1. 伊藤祐司ほか. 原発性副甲状腺機能亢進症の疫学. 日本臨牀2001; 59: 87-94.
 
2. 遠藤逸郎, 松本俊夫. 原発性副甲状腺機能亢進症. 日本臨牀2006; 64: 1718-23.
 
3. 杉本利嗣. 副甲状腺機能亢進症. 亀山正邦, 高久史麿 編. 今日の治療指針. 第5版. 東京: 医学書院; 2002. p.1089-90.
 
4. 松本俊夫. 副甲状腺機能低下症. 今日の治療指針. 第5版. 東京: 医学書院; 2002. p.1091-3.
 
5. 杉本利嗣, 山口 徹. 副甲状腺機能亢進症. 福永仁夫 編. 骨粗鬆症の診断と鑑別. 東京: 医薬ジャーナル社; 2005. p.206-13.
 
6. 古川洋太郎, 水梨一利. 特発性副甲状腺機能低下症. 日本臨牀1995; 53: 170-5.
 
7. 楊 鴻生. 上皮小体機能亢進症. 山本吉蔵 編. 新図説臨床整形外科講座10. 骨系統・代謝疾患. 東京: メジカルビュー社; 1994. p.232-5.
 
8. 楊 鴻生. 腎性骨ジストロフィー, 原発性上皮小体機能亢進症. 山内裕雄ほか編. 今日の整形外科治療指針. 第3版. 東京: 医学書院; 1995. p.195-7.
 
P.296 掲載の参考文献
1. Bastepe M, Juppner H. Editorial: Pseudohypoparathyroidism and mechanisms of resistance toward multiple hormones: Molecularevidence to clinical presentation. J Clin Endocrinol Metab 2003; 88: 4055-8.
 
2. Weinstein LS, et al. Minireview: GNAS: Normal and abnormal functions. Endocrinology 2004; 145: 5459-64.
PubMed
3. Gensure RC, et al. Parathyroid hormone and parathyroid hormone-related peptide, and their receptors. Biochem Biophys Res Commun 2005; 328: 666-78.
PubMed
4. Ding C, et al. Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. J Clin Invest 2001; 108: 1215-20.
PubMed
5. Ahrens W, et al. Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 2001; 86: 4630-4.
PubMed
6. De Sanctis L, et al. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. Pediatr Res 2003; 53: 749-55.
PubMed
7. Iiri T, et al. Rapid GDP release from Gsα in patients with gain and loss of endocrine function. Nature 1994; 371: 164-8.
 
8. Weinstein LS, et al. Endocrine manifestations of stimulatory G protein α-subunit mutations and the role of genomic imprinting. Endocr Rev 2001; 22: 675-705.
 
9. Lalande M. Imprints of disease at GNAS1. J Clin Invest 2001; 107: 793-4.
PubMed
10. Linglart A, et al. A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. Am J Hum Genet 2005; 76: 804-14.
PubMed
11. Liu J, et al. Identification of the control region for tissue-specific imprinting of the stimulatory G protein α-subunit. Proc Natl Acad Sci USA 2005; 102: 5513-8.
 
12. Bastepe M, et al. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet 2005; 37: 25-7.
PubMed
13. Eddy MC, et al. Deficiency of the α-subunit of the stimulatory G protein and severe extraskeletal ossification. J Bone Miner Res 2000; 15: 2074-83.
 
14. Yeh GL, et al. GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis. J Bone Miner Res 2000; 15: 2063-73.
 
15. Zhang P, et al. A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endoclinol Metab 1998; 83: 3365-8.
 
16. Schipani E, et al. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995; 268: 98-100.
PubMed
P.303 掲載の参考文献
1. The HYP Consortium. A gene(PEX)with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 1995; 11: 130-6.
 
2. ADHR Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 2000; 26: 345-8.
PubMed
3. Shimada T, et al. Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci USA 2001; 98: 6500-5.
PubMed
4. Ichikawa S, et al. Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. J Clin Endocrinol Metab 2006; 91: 4022-7.
PubMed
5. Riminucci M, et al. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest 2003; 112: 683-92.
PubMed
6. Liu S, et al. Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX. J Biol Chem 2003; 278: 37419-26.
 
7. Kobayashi K, et al. Expression of FGF23 is correlated with serum phosphate level in isolated fibrous dysplasia. Life Sci 2006; 78: 2295-301.
PubMed
8. White KE, et al. Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J Hum Genet 2005; 76: 361-7.
PubMed
9. Abdel-Wanis M, Kawahara N. Hypophosphatemic osteomalacia in neurofibromatosis 1: Hypotheses for pathogenesis and higher incidence of spinal deformity. Med Hypotheses 2002; 59: 183-5.
PubMed
10. Retnam VJ, et al. Neurofibromatosis with hypophosphatemic osteomalacia (Von Recklinghausen-Hernberg-Edgren-Swann syndrome): A case report. J Assoc Physicians India 1980; 28: 319-22.
 
11. Hogan DB, et al. Hypophosphatemic osteomalacia complicating von Recklinghausen's neurofibromatosis: Increase in spinal density on treatment. Bone 1986; 7: 9-12.
 
12. Kishida ES, et al. Epidermal nevus syndrome associated with adnexal tumors, spitz nevus, and hypophosphatemic vitamin Dresistant rickets. Pediatr Dermatol 2005; 22: 48-54.
PubMed
13. Olivares JL, et al. Epidermal naevus syndrome and hypophosphataemic rickets: Description of a patient with central nervous system anomalies and review of the literature. Eur J Pediatr 1999; 158: 103-7.
PubMed
14. Holm IA, et al. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 2001; 86: 3889-99.
 
15. Mughal Z. Rickets in childhood. Semin Musculoskelet Radiol 2002; 6: 183-90.
PubMed
16. Pereira CM, et al. Dental alterations associated with X-linked hypophosphatemic rickets. J Endod 2004; 30: 241-5.
PubMed
17. Fishman G, et al. Hearing impairment in familial X-linked hypophosphatemic rickets. Eur J Pediatr 2004; 163: 622-3.
PubMed
18. Econs MJ, McEnery PT. Autosomal dominant hypophosphatemic rickets/osteomalacia: Clinical characterization of a novel renal phosphate-wasting disorder. J Clin Endocrinol Metab 1997; 82: 674-81.
PubMed
19. Avila NA, et al. Oncogenic osteomalacia: Lesion detection by MR skeletal survey. AJR Am J Roentgenol 1996; 167: 343-5.
PubMed
20. Fukumoto S, et al. Diagnostic utility of magnetic resonance imaging skeletal survey in a patient with oncogenic osteomalacia. Bone 1999; 25: 375-7.
 
21. Dupond JL, et al. Oncogenic osteomalacia: Diagnostic importance of fibroblast growth factor 23 and F-18 fluorodeoxyglucose PET/CT scan for the diagnosis and follow-up in one case. Bone 2005;36 : 375-8.
 
22. Rhee Y, et al. Oncogenic osteomalacia associated with mesenchymal tumour detected by indium-111 octreotide scintigraphy. Clin Endocrinol (Oxf) 2001; 54: 551-4.
PubMed
23. Casari S, et al. A case of oncogenic osteomalacia detected by 111In-pentetreotide total body scan. Clin Exp Rheumatol 2003; 21: 493-6.
 
24. Takeuchi Y, et al. Venous sampling for fibroblast growth factor-23 confirms preoperative diagnosis of tumor-induced osteomalacia. J Clin Endocrinol Metab 2004; 89: 3979-82.
PubMed
25. Rowe PS, et al. MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia. Genomics 2000; 67: 54-68.
PubMed
26. Berndt T, et al. Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agent. J Clin Invest 2003; 112: 785-94.
PubMed
27. Carpenter TO, et al. Fibroblast growth factor 7: An inhibitor of phosphate transport derived from oncogenic osteomalacia-causing tumors. J Clin Endocrinol Metab 2005; 90: 1012-20.
PubMed
28. Shimada T, et al. FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res 2004; 19: 429-35.
 
29. Yamazaki Y, et al. Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab 2002; 87: 4957-60.
PubMed
P.309 掲載の参考文献
1. 小野妙子, 清野佳紀. 骨軟化症・くる病. 坂根 剛, 森井浩世 編. 最新内科学大系73. 骨疾患. 東京: 中山書店; 1995. p.251-71.
 
2. 橋本 淳. 骨軟化症. 二ノ宮節夫ほか編. 今日の整形外科治療指針. 第4版. 東京: 医学書院; 2000. p.257-9.
 
3. 稲松 登ほか. くる病と骨軟化症, 胃切除後骨軟化症, 家族性低リン血性くる病. 中野謙吾編. 代謝性骨疾患. 東京: 羊土社; 1989. p.140-68.
 
4. Parsons V. Richets, osteomalacia. In: A Color Atlas of Bone Disease. London : Wolfe Medical; 1980. p.39-44.
 
5. 山下武美. FGF23の同定と作用. 腎と骨代謝2005; 18: 91-7.
 
6. 岸本英彰. くる病, 骨軟化症. 山内裕雄ほか編. 今日の整形外科治療指針. 第3版. 東京: 医学書院; 1995. p.192-4.
 

11章 多発性腫瘍類似疾患

P.313 掲載の参考文献
1. Mouchet A, et al. La tarsomegalie. J Radiol Electrol 1926; 10: 289-93.
 
2. Fairbank TJ. Dysplasia epiphysealis hemimelica (tarso-epiphyseal aclasis). J Bone Joint Surg Br 1956; 38: 237-57.
PubMed
3. Azouz EM, et al. The variable manifestations of dysplasia epiphysealis hemimelica. Pediatr Radiol 1985; 15: 44-9.
PubMed
4. 西山正紀ほか. 著明な外反膝変形を呈したDysplasia Epiphysealis Hemimelica の1例. 臨整外1997; 32: 819-22.
 
5. 松浦正典ほか. Dysplasia epiphysealis hemimelica の2例. 臨整外1996; 31: 1287-90.
 
6. 古賀正一郎ほか. Dysplasia epiphysealis hemimelica の一治療経験. 整形外科と災害外科1995; 44: 1389-93.
 
7. Carlson DH, et al. Variability of unilateral epiphyseal dysplasia (dysplasia epiphysealis hemimelica). Radiology 1979; 133: 369-73.
PubMed
8. Keret D, et al. Dysplasia epiphysealis hemimelica : Diagnosis and treatment. J Pediatr Orthop 1992; 12: 365-72.
PubMed
9. 加藤有紀ほか. Dysplasia epiphysealis hemimelica の手術治療. 東日本整災会誌2002; 14: 16-22.
 
P.317 掲載の参考文献
1. Herring JA. Hereditary multiple exostoses. In: Tachdjian's Pediatric Orthopaedics. Philadelphia: Saunders; 2002. p.1920-6.
 
2. 日本整形外科学会骨・軟部腫瘍委員会 編. 全国骨腫瘍患者登録一覧表(平成14年度). 東京: 国立がんセンター; 2002.
 
3. Ahn J, et al. Cloning of the putative tumor suppressor gene for hereditary multiple exostoses(EXT1). Nat Genet 1995; 11: 137-43.
PubMed
4. Stickens D, et al. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet 1996; 14: 25-32.
PubMed
5. Le Merrer M, et al. A gene for hereditary multiple exostoses maps to chromosome 19p.Hum Mol Genet 1994; 3: 717-22.
PubMed
6. 北川裕之. 遺伝性多発性外骨腫とヘパラン硫酸の生合成. 医学のあゆみ2003; 207: 348-54.
 
7. Schmale GA, et al. The natural history of hereditary multiple exostoses. J Bone Joint Surg Am 1994; 76: 986-92.
PubMed
8. Masada K, et al. Operations for forearm deformity caused by multiple osteochondromas. J Bone Joint Surg Br 1989; 71: 24-9.
PubMed
P.324 掲載の参考文献
1. Ollier L. De la dyschondroplasie. Bull Soc Chir Lyon 1900; 3: 22-7.
 
2. Lucas DR, et al. Chondromas: Enchondroma, periosteal chondroma, and enchondromatosis. In: Fletcher CDM, et al, editors. World Health Organization Classification of Tumours. Tumours of Soft Tissue and Bone. Washington DC: IARC Press; 2002. p.239-40, 250-1, 356-7.
 
3. McKusick VA. Mendelian inheritance in man. In: Catalogs of Human Genes and Genetic Disorders. 12th edition. Baltimore: Johns Hopkins Univ Press; 1998.
 
4. Maffucci A. Di un caso di enchondroma ed angioma multiplo. Mov Med Chir 1881; 13: 399-412.
 
5. Carleton A, et al. Maffucci's syndrome (dyschondroplasia and haemangiomata). Q J Med; 1942; 11: 203-28.
 
6. Hopyan S, et al. A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat Genet 2002; 30: 306-10.
PubMed
7. Rozeman LB, et al. Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. Hum Mutat 2004; 24: 466-73.
 
8. Rozeman LB, et al. cDNA expression profiling of chondrosarcomas: Ollier disease resembles solitary tumours and alteration in genes coding for components of energy metabolism occurs with increasing grade. J Pathol 2005; 207: 61-71.
 
9. Bovee JV, et al. Malignant progression in multiple enchondromatosis (Ollier's disease): An antopsy-based molecular genetic study. Hum Pathol 2000; 31: 1299-303.
 
10. Mirra JM. Intramedullary cartilage- and chondroid-producing tumors. In : Bone Tumors: Clinical, Radiologic, and Pathologic Correlations. Philadelphia: Lea & Febiger; 1989. p.439-690.
 
11. Lucas DR, et al. Chondromas: Enchondroma, periosteal chondroma, and enchondromatosis. In: Fletcher CDM, et al, editors. World Health Organization Classification of Tumours. Tumours of Soft Tissue and Bone. Washington DC: IARC Press; 2002. p.237-40.
 
12. 富沢義宏ほか. Maffucci 症候群-とくに悪性化例の検討. 整形外科1988; 39: 319-27.
 
13. 佐藤啓二ほか. 悪性化した Maffucci's syndrome の2例. 中部整災誌1979; 22: 371-2.
 
14. Lewis R, et al. Maffucci's syndrome: Functional and neoplastic significance. J Bone Joint Surg Am 1973; 55: 1465-79.
PubMed
15. 高田章弘ほか. 経過観察中に悪性化を来たしたMaffucci症候群の1例. 中部整災誌1995; 38: 1123-4.
 
16. Liu J, et al. Bone sarcomas associated with Ollier's disease. Cancer 1987; 59: 1376-85.
PubMed
17. Tamai N, et al. Novel hydroxyapatite ceramics with an interconnective porous structure exhibit superior osteoconduction in vivo. J Biomed Mater Res 2002; 59: 110-7.
PubMed

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