| Literature DB >> 10383781 |
F Loche1, P Bayle-Lebey, J P Carriere, J L Bonafe, J Bazex, H P Schwarze.
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.Entities:
Mesh：
Year: 1999 PMID： 10383781 DOI： 10.1046/j.1525-1470.1999.00063.x
Source DB: PubMed Journal: Pediatr Dermatol ISSN： 0736-8046 Impact factor: 1.588