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Pili torti with congenital deafness (Bjornstad syndrome): a case report.
Pediatr Dermatol. 1999 May-Jun; 16(3):220-1.PD

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+Show Affiliations

Department of Dermatology, Purpan Hospital, Toulouse, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10383781

Citation

Loche, F, et al. "Pili Torti With Congenital Deafness (Bjornstad Syndrome): a Case Report." Pediatric Dermatology, vol. 16, no. 3, 1999, pp. 220-1.
Loche F, Bayle-Lebey P, Carriere JP, et al. Pili torti with congenital deafness (Bjornstad syndrome): a case report. Pediatr Dermatol. 1999;16(3):220-1.
Loche, F., Bayle-Lebey, P., Carriere, J. P., Bonafe, J. L., Bazex, J., & Schwarze, H. P. (1999). Pili torti with congenital deafness (Bjornstad syndrome): a case report. Pediatric Dermatology, 16(3), 220-1.
Loche F, et al. Pili Torti With Congenital Deafness (Bjornstad Syndrome): a Case Report. Pediatr Dermatol. 1999 May-Jun;16(3):220-1. PubMed PMID: 10383781.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pili torti with congenital deafness (Bjornstad syndrome): a case report. AU - Loche,F, AU - Bayle-Lebey,P, AU - Carriere,J P, AU - Bonafe,J L, AU - Bazex,J, AU - Schwarze,H P, PY - 1999/6/26/pubmed PY - 1999/6/26/medline PY - 1999/6/26/entrez SP - 220 EP - 1 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 16 IS - 3 N2 - 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. SN - 0736-8046 UR - https://wwww.unboundmedicine.com/medline/citation/10383781/Pili_torti_with_congenital_deafness__Bjornstad_syndrome_:_a_case_report_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0736-8046&date=1999&volume=16&issue=3&spage=220 DB - PRIME DP - Unbound Medicine ER -