Document Detail


Pili torti with congenital deafness (Bjornstad syndrome): a case report.
MedLine Citation:
PMID:  10383781     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
F Loche; P Bayle-Lebey; J P Carriere; J L Bonafe; J Bazex; H P Schwarze
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric dermatology     Volume:  16     ISSN:  0736-8046     ISO Abbreviation:  Pediatr Dermatol     Publication Date:    1999 May-Jun
Date Detail:
Created Date:  1999-07-14     Completed Date:  1999-07-14     Revised Date:  2009-03-03    
Medline Journal Info:
Nlm Unique ID:  8406799     Medline TA:  Pediatr Dermatol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  220-1     Citation Subset:  IM    
Affiliation:
Department of Dermatology, Purpan Hospital, Toulouse, France.
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Female
Hair Diseases / complications,  pathology*
Hearing Loss, Bilateral / complications*,  congenital
Humans
Syndrome

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