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.