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Pili Torti with Congenital Deafness (Bjornstad Syndrome): A Case Report
Author(s) -
F Loche,
P Bayle-Lebey,
Carrière Jp,
Bonafé Jl,
J Bazex,
Schwarze Hp
Publication year - 1999
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1046/j.1525-1470.1999.00063.x
Subject(s) - medicine , hearing loss , girl , pediatrics , hair disease , autosomal recessive inheritance , cabello , inheritance (genetic algorithm) , congenital disease , dermatology , audiology , genetics , surgery , biology , gene , scalp
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.