1. 吉川靖三. 骨系統疾患・総論. 大野藤吾ほか編. 臨床整形外科学4 疾患編I. 東京: 中外医学社; 1988. p. 3-13.
2. 三木威勇治. 先天性骨系統疾患とその分類上の私見. 整形外科1952; 3: 1-9.
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. Spranger JW, et al. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development. 2nd edition. Oxford: Oxford University Press; 2002.
5. Maroteaux P. International nomenclature of constitutional diseases of bone with bibliography. Revised edition. Birth Defects Orig Artic Ser 1986; 22: 1-54.
6. Superti-Furga A, Unger S, and the ISDS Nosology Group. Nosology and classification of genetic skeletal disorders-2006 Revision. Am J Med Genet A 2007; 143: 1-18.
7. 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.
8. 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.
9. El-Khoury GY, Sato Y. Imaging modalities. In: Weinstein SL, editor. The Pediatric Spine. Vol. 1. New York: Raven Press; 1994. p. 141-70.
10. Superti-Furga A, et al. Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet 2001; 106: 282-93.
11. 厚生労働省乳幼児身体発育調査報告書. http://www.mhlw.go.jp/houdou/0110/h1024-4.html
12. 文部科学省学校保健統計調査. http://www.mext.go.jp/b_menu/toukei/001/index03.htm
13. Dimeglio A. Growth in pediatric orthopaedics. In: Morrissy RT, Weinstein SL, editors. Lovell and Winter's Pediatric Orthopaedics. 6th edition. Philadelphia: Lippincott Williams & Wilkins; 2006. p. 35-65.
14. 小原二郎ほか. 人体を計る-計測値のデザイン資料. 東京: 日本出版サービス; 1986.
15. 北野元裕ほか. 軟骨無形成症の脛骨/大腿骨比について. 日小整会誌1996; 5: 237-40.
16. 水島哲也. 骨系統疾患. 臨整外1990; 25: 723-31.
17. 西村 玄. X線所見からの診断のすすめかた. 小児内科2004; 36 (増): 57-64.
18. 西村 玄. 骨系統疾患X線アトラス. 東京: 医学書院; 1993.
19. Taybi H, Lachman RS. Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th edition. St. Louis: Mosby; 1996.
20. Jones KL. Smith's Recognizable Patterns of Human Malformation. 6th edition. Philadelphia: Elsevier Saunders; 2006.
21. 梶井 正ほか. 新先天奇形症候群アトラス. 東京: 南江堂; 1998.
22. Online Mendelian Inheritance in Man(OMIM). http://www.ncbi.nlm.nih.gov/sites/entrez?db=omin
23. European Skeletal Dysplasia Network. http://www.esdn.org/
24. 日本整形外科学会会員専用ホームページ. http://www.joa.or.jp/member
25. Gene Tests. http://www.genetests.org/
31. Matarazzo P, et al. Pamidronate treatment in bone fibrous dysplasia in children and adolescents with McCune-Albright syndrome. J Pediatr Endocrinol Metab 2002; 15: 929-37.