Distal arthrogryposis type II: a family with varying congenital abnormalities.
Five family members with distal arthrogryposis in two generations are reported. Cleft lip and palate, micrognathia, ptosis, webbed neck, kyphoscoliosis, and short stature are seen in one or more affected family members. All individuals with distal arthrogryposis also have trismus. This family does not fit any of the recently proposed five subcategories of type II distal arthrogryposis, nor does it fit any other recognized autosomal dominant condition with distal contractures.
D001176:Arthrogryposis / Q000235:genetics* / Q000473:pathology; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000473:pathology; D006801:Humans; D007569:Jaw Abnormalities / Q000235:genetics; D010375:Pedigree; D012600:Scoliosis / Q000235:genetics; D014313:Trismus / Q000235:genetics