Familial arthrogryposis with distal involvement of the limbs.
Five cases of arthrogryposis multiplex congenita in two families characterized by autosomal dominant inheritance, intrafamilial variability and primary involvement of the distal part of the limbs were analyzed to suggest that this condition is comparable to previously reported cases classified as distal arthrogryposis or digitotalar dysmorphism. These patients may represent a specific clinical entity. Heritable disorders should be distinguished from other forms of arthrogryposis for purposes of genetic counseling as well as therapeutic management.
D001176:Arthrogryposis / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005528:Foot; D006225:Hand; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography