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

Kristen A. Richards*, Anthony J. Mancini

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)301-303
Number of pages3
JournalJournal of the American Academy of Dermatology
Volume46
Issue number2
DOIs
StatePublished - 2002

ASJC Scopus subject areas

  • Dermatology

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