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Case Reports
. 2002 Feb;46(2):301-3.
doi: 10.1067/mjd.2002.107969.

Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome

Kristen A Richards  1 , Anthony J Mancini
Affiliations
Case Reports

Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome

Kristen A Richards et al. J Am Acad Dermatol. 2002 Feb.

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.

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