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Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome.
J Am Acad Dermatol. 2002 Feb; 46(2):301-3.JA

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+Show Affiliations

Department of Dermatology, Northwestern University Medical School, Children's Memorial Hospital, Chicago, IL, USA.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11807445

Citation

Richards, Kristen A., and Anthony J. Mancini. "Three Members of a Family With Pili Torti and Sensorineural Hearing Loss: the Bjornstad Syndrome." Journal of the American Academy of Dermatology, vol. 46, no. 2, 2002, pp. 301-3.
Richards KA, Mancini AJ. Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome. J Am Acad Dermatol. 2002;46(2):301-3.
Richards, K. A., & Mancini, A. J. (2002). Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome. Journal of the American Academy of Dermatology, 46(2), 301-3.
Richards KA, Mancini AJ. Three Members of a Family With Pili Torti and Sensorineural Hearing Loss: the Bjornstad Syndrome. J Am Acad Dermatol. 2002;46(2):301-3. PubMed PMID: 11807445.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome. AU - Richards,Kristen A, AU - Mancini,Anthony J, PY - 2002/1/25/pubmed PY - 2002/2/28/medline PY - 2002/1/25/entrez SP - 301 EP - 3 JF - Journal of the American Academy of Dermatology JO - J Am Acad Dermatol VL - 46 IS - 2 N2 - 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. SN - 0190-9622 UR - https://wwww.unboundmedicine.com/medline/citation/11807445/Three_members_of_a_family_with_pili_torti_and_sensorineural_hearing_loss:_the_Bjornstad_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0190-9622(02)05561-5 DB - PRIME DP - Unbound Medicine ER -