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Journal of the American Academy of Dermatology
Volume 46, n° 2
pages 301-303 (février 2002)
Doi : 10.1067/mjd.2002.107969
Three members of a family with pili torti and sensorineural hearing loss: The Bjornstad syndrome
 

Kristen A. Richards, MDa, Anthony J. Mancini, MDa,b
Chicago, Illinois 
From the Departments of Dermatologya and Pediatrics,b Northwestern University Medical School, Children's Memorial Hospital 

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. (J Am Acad Dermatol 2002;46:301-3.)

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© 2002  American Academy of Dermatology, Inc. Published by Elsevier Masson SAS@@#104157@@