Pili torti with congenital deafness (Bjornstad syndrome): a case report.
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.
Loche
F
F
Department of Dermatology, Purpan Hospital, Toulouse, France.
Bayle-Lebey
P
P
Carriere
J P
JP
Bonafe
J L
JL
Bazex
J
J
Schwarze
H P
HP
D002675:Child, Preschool; D005260:Female; D006201:Hair Diseases / Q000150:complications / Q000473:pathology*; D006312:Hearing Loss, Bilateral / Q000150:complications* / Q000151:congenital; D006801:Humans; D013577:Syndrome