Pili torti with congenital deafness (Bjornstad syndrome): a case report

Pediatr Dermatol. 1999 May-Jun;16(3):220-1. doi: 10.1046/j.1525-1470.1999.00063.x.

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.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Female
  • Hair Diseases / complications
  • Hair Diseases / pathology*
  • Hearing Loss, Bilateral / complications*
  • Hearing Loss, Bilateral / congenital
  • Humans
  • Syndrome