Charles J. Epstein, M.D.; William E. Hodgkin, M.D.; Fredrick Hecht, M.D.; C. Benjamin Graham, M.D.; Arno G. Motulsky, M.D., F.A.C.P.
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A 39-year-old man and his 15-month-old son have been under investigation for a dominantly inherited musculoskeletal disorder. The father has been markedly dwarfed since childhood as the result of a very severe kyphoscoliosis. In addition, he manifests (1) flexion contractures of several joints, particularly in the hands; (2) thin extremities with poorly developed musculature; (3) long slender fingers and toes ("arachnodactyly"); and (4) abnormally formed external ears. Shortly after birth, the patient's son was noted to have all of the enumerated features, and over the course of a year has progressively developed a moderately severe kyphoscoliosis. At the age of
Epstein CJ, Hodgkin WE, Hecht F, Graham CB, Motulsky AG. A New Form of Hereditary Kyphoscoliosis.. Ann Intern Med. ;62:1096–1097. doi: 10.7326/0003-4819-62-5-1096_3
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Published: Ann Intern Med. 1965;62(5):1096-1097.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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