title: Pili torti with congenital deafness (Bjornstad syndrome): a case report.
abstract: We report Bjornstad syndrome in a 5-year-old girl with severe bilateral congenital loss of hearing and pili torti. The mode of inheritance of this rare syndrome seems to be heterogeneous. A maternal uncle of the patient was deaf from birth and his hair had shown the same abnormalities at the same age; an autosomal recessive transmission can be assumed.
authors.affiliation: Department of Dermatology, Purpan Hospital, Toulouse, France.
authors.forename: F
authors.initials: F
authors.lastname: Loche
authors.forename: P
authors.initials: P
authors.lastname: Bayle-Lebey
authors.forename: J P
authors.initials: JP
authors.lastname: Carriere
authors.forename: J L
authors.initials: JL
authors.lastname: Bonafe
authors.forename: J
authors.initials: J
authors.lastname: Bazex
authors.forename: H P
authors.initials: HP
authors.lastname: Schwarze
mesh_terms: D002675:Child, Preschool; D005260:Female; D006201:Hair Diseases / Q000150:complications / Q000473:pathology*; D006312:Hearing Loss, Bilateral / Q000150:complications* / Q000151:congenital; D006801:Humans; D013577:Syndrome