Hereditary vitreoretinal degeneration, cleft lip and palate, deafness, and skeletal dysplasia.
Two brothers and their mother had vitreoretinal degeneration associated with cleft palate, a peculiar physiognomy, skeletal anomalies, and sensorineural deafness. The pattern of inheritance in this family suggested autosomal dominant transmission.
D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003241:Consanguinity; D005128:Eye Diseases / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009755:Night Blindness / Q000235:genetics; D010375:Pedigree; D012162:Retinal Degeneration / Q000235:genetics*; D012163:Retinal Detachment / Q000235:genetics; D013577:Syndrome; D014822:Vitreous Body