Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the branchio-oculo-facial syndrome

Citation
G. Vantrappen et al., Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the branchio-oculo-facial syndrome, GEN COUNSEL, 11(3), 2000, pp. 273-276
Citations number
4
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
GENETIC COUNSELING
ISSN journal
10158146 → ACNP
Volume
11
Issue
3
Year of publication
2000
Pages
273 - 276
Database
ISI
SICI code
1015-8146(2000)11:3<273:CHLAMP>2.0.ZU;2-I
Abstract
Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial Syndrome: We describe a 3-y ear-old girl with bilateral severe conductive hearing loss and multiple bil ateral supra- and preauricular defects with unusual overlying thin skin. Th e severe conductive hearing loss is due to abnormal configuration of the os sicular chain. Multiple pre- and supra-auricular skin defects have been des cribed in the Branchio-Oculo-Facial syndrome, and we propose that the findi ngs in our present patient may be a variant manifestation of this syndrome.