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.