Autosomal dominant inheritance of conductive deafness due to stapedial anomalies, external ear malformations and congenital facial palsy.
Three siblings of Indian stock had profound bilateral conductive deafness with variable malformations of the external ears, stapedial abnormalities and facial paralysis. Their mother was similarly affected and inheritance of this private syndrome is evidently autosomal dominant. Some improvement of auditory function was obtained by surgical intervention in the middle ear.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D004429:Ear Ossicles / Q000002:abnormalities*; D004431:Ear, External / Q000002:abnormalities*; D005158:Facial Paralysis / Q000151:congenital / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D034381:Hearing Loss / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000151:congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D013199:Stapes / Q000002:abnormalities*; D013577:Syndrome