Hearing impairment in female carriers of the sex-linked syndrome of deafness with albinism.

A family which is part of a large kindred in which a sex-linked recessive syndrome manifested by profound deafness and partial albinism was reported by Margolis (1962) and independently by Ziprkowski et al. (1962). According to their reports hearing impairment was not found in carriers. The family first came to our attention because of deafness of a male child (III.5, Fig. 1) and later for genetic counselling when his mother (II.1) became pregnant. She did not admit hearing loss, but a routine audiometry disclosed a severe sensorineural deafness on the left side, which was moderate on the right. Because of this finding in a genetically proven carrier, we examined other female members of the family who were unaware of hearing loss, and more cases with hearing impairment were detected. They are reported here.