Autosomal recessive sensorineural-conductive deafness, mental retardation, and pinna anomalies.
Three siblings, a boy and two girls aged 11, 9, and 4 years, were found to have a congenital disorder characterized by malformed, low-set ears and sensorineural-conductive hearing loss. Variable expressivity was evident, since the boy had both types I and III of microtia and his two sisters had only type I. The normal parents were third cousins. The analysis of these findings permits the identification of a distinct nosologic entity due to the homozygocity of an autosomal recessive mutation.
D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003638:Deafness / Q000150:complications / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male