Citation
F. Loche et al., Pill torti with congenital deafness (Bjornstad syndrome): A case report, PEDIAT DERM, 16(3), 1999, pp. 220-221
Citations number
9
Categorie Soggetti
Pediatrics
Journal title
PEDIATRIC DERMATOLOGY
ISSN journal
07368046
→ ACNP
Volume
16
Issue
3
Year of publication
1999
Pages
220 - 221
Database
ISI
SICI code
0736-8046(199905/06)16:3<220:PTWCD(>2.0.ZU;2-V
Abstract
We report Bjornstad syndrome in a 5-year-old girl with severe bilateral con
genital loss of hearing and pili torti. The mode of inheritance of this rar
e syndrome seems to be heterogeneous. A maternal uncle of the patient was d
eaf from birth and his hair had shown the same abnormalities at the same ag
e; an autosomal recessive transmission can be assumed.