Autosomal-dominant inheritance of distal arthrogryposis.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001176:Arthrogryposis / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003025:Clubfoot / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography