title: Sensorineural hearing loss and pili torti.
abstract: 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.
mesh_terms: 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