McCormack M K, Coppola-McCormack P J, Lee M L
Am J Med Genet. 1980;6(2):163-9. doi: 10.1002/ajmg.1320060210.
We report on a 32-year-old Italian man, his 5-year-old daughter, and his 3 1/2-year-old son, all of whom had congenital joint contractures. Each has severe ulnar deviation of fingers and soft-tissue contractures of both hands; and each had bilateral clubfeet at birth. The father is short in stature, as are the children, who also have delayed carpal ossification. The findings in this family suggest autosomal-dominant inheritance of the condition. The clinical features are consistent with the condition currently referred to as "distal" arthrogryposis.
我们报告了一名32岁的意大利男子、他5岁的女儿和3岁半的儿子，他们均患有先天性关节挛缩症。每个人都有严重的手指尺侧偏斜和双手软组织挛缩；并且每个人出生时都有双侧马蹄内翻足。父亲身材矮小，孩子们也是如此，他们还存在腕骨骨化延迟的情况。这个家族的发现提示该病为常染色体显性遗传。临床特征与目前称为“远端”关节弯曲综合征的病症相符。
