title: Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome.
abstract: Thirty cases of the Bjornstad syndrome (sensorineural deafness and pili torti) have been reported between 1965, when it was first described, and 1999. Both autosomal dominant and recessive inheritance patterns appear in the literature. We describe a family in which 3 members have the combination of pili torti and varying degrees of hearing loss inherited in an apparently autosomal dominant fashion. Hairs from the father and son of this family showed the classic features of pili torti under scanning electron microscopy.
authors.affiliation: Department of Dermatology, Northwestern University Medical School, Children's Memorial Hospital, Chicago, IL, USA.
authors.forename: Kristen A
authors.initials: KA
authors.lastname: Richards
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Mancini
mesh_terms: D001299:Audiometry; D002648:Child; D025063:Chromosome Disorders; D005500:Follow-Up Studies; D006197:Hair / Q000002:abnormalities* / Q000648:ultrastructure; D006201:Hair Diseases / Q000150:complications / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008855:Microscopy, Electron, Scanning; D010375:Pedigree; D013577:Syndrome