TY - JOUR
T1 - Autosomal-dominant inheritance of distal arthrogryposis
AU - McCormack, M. K.
AU - Coppola-McCormack, P. J.
AU - Lee, M.
PY - 1980
Y1 - 1980
N2 - The authors report on a 32-year-old Italian man, his 5-year-old daughter, and his 3.5-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.
AB - The authors report on a 32-year-old Italian man, his 5-year-old daughter, and his 3.5-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.
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U2 - 10.1002/ajmg.1320060210
DO - 10.1002/ajmg.1320060210
M3 - Article
C2 - 7446562
AN - SCOPUS:0018954775
SN - 0148-7299
VL - 6
SP - 163
EP - 169
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -