Retinal detachment in median cleft-face syndrome.
A 7-year-old boy had an unusual association of median cleft-face syndrome, a characteristic physiognomy, unilateral retinal dysplasia, and bilateral retinal detachment. Despite surgical treatment to both eyes he became blind. The hereditary pattern operating in this complex disorder was found to be consistent with an autosomal dominant trait.
D002648:Child; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D012163:Retinal Detachment / Q000235:genetics*; D013577:Syndrome