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

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.

• Authors: F Loche, P Bayle-Lebey, J P Carriere, J L Bonafe, J Bazex, H P Schwarze
• Journal: Pediatric dermatology (Pediatr Dermatol) Vol. 16 Issue 3 Pg. 220-1 ( 1999) ISSN: 0736-8046 [Print] United States
• PMID: 10383781 (Publication Type: Case Reports, Journal Article)

Topics

• Child, Preschool
• Female
• Hair Diseases (complications, pathology)
• Hearing Loss, Bilateral (complications, congenital)
• Humans
• Syndrome