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.

Diseases of cutaneous appendages

“…The hairs show an unusual twisting and matting. 617,618 The responsible gene maps to chromosome 2q34-q36. 503 Sites other than the scalp may be affected.…”

The genetics of hair shaft disorders

“…Bjornstad syndrome is a rare disorder characterized by congenital sensorineural hearing loss and PT [157][158][159][160][161][162][163][164] which has been mapped to chromosone 2q34-36. 162, 165 Crandall syndrome is similar with findings of hypogonadism.…”

A point to note in pili torti

“…also reported Björnstad syndrome in the family as an autosomal recessive mode of transmission. [ 4 ] In this case history of consanguinity of marriage was present with a similar history in siblings representing autosomal recessive inheritance.…”