Sensorineural hearing loss and pili torti.
Twelve patients with pili torti and sensorineural hearing loss have been described since 1965. We present two new families with this combination of symptoms, and a restudy of a third family. The genetic aspects are discussed. Tentatively it is concluded that pili torti is an autosomal dominant with a low penetrance of a pleiotropic manifestation of sensorineural hearing loss.
D000328:Adult; D001299:Audiometry; D002648:Child; D002675:Child, Preschool; D002877:Chromosomes, Human; D005260:Female; D005808:Genes, Recessive; D006197:Hair / Q000002:abnormalities*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree