Unilateral carpal bone deformity in mother and son.
We report on a mother and son with unilateral absence of most of the proximal carpal bones, dysplasia of the distal row of carpal bones, and deformity of the forearm. Although carpal bone dysplasia has been reported in several congenital or progressive disorders, unilateral involvement with lack of progression makes this a distinct entity.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002348:Carpal Bones / Q000002:abnormalities*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008334:Mandible / Q000002:abnormalities; D008844:Micrognathism / Q000235:genetics; D010375:Pedigree; D011884:Radius / Q000002:abnormalities; D014457:Ulna / Q000002:abnormalities