Upper limb involvement in the Klein-Waardenburg syndrome.
Upper limb involvement in the Klein--Waardenburg (K--W) syndrome is documented in two affected sibs and in four other previously reported patients. In addition to the key facial and auditory findings observed in the Waardenburg syndrome type I, these patients have such bilateral upper limb defects as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, and syndactyly. The cause of the K--W syndrome is not known although there is some evidence for autosomal dominant inheritance, but further documentation is needed before this can be considered conclusive.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000368:Aged; D001132:Arm / Q000002:abnormalities*; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006225:Hand / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D013577:Syndrome; D014849:Waardenburg Syndrome / Q000235:genetics*