title: Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial syndrome.
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-year-old girl with bilateral severe conductive hearing loss and multiple bilateral supra- and preauricular defects with unusual overlying thin skin. The severe conductive hearing loss is due to abnormal configuration of the ossicular chain. Multiple pre- and supra-auricular skin defects have been described in the Branchio-Oculo-Facial syndrome, and we propose that the findings in our present patient may be a variant manifestation of this syndrome.
authors.affiliation: Department of Oto-Rhino-Laryngology, Head and Neck Surgery, University Hospital Leuven, Belgium.
authors.forename: G
authors.initials: G
authors.lastname: Vantrappen
authors.forename: L
authors.initials: L
authors.lastname: Feenstra
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D019280:Branchio-Oto-Renal Syndrome / Q000150:complications* / Q000175:diagnosis; D002675:Child, Preschool; D004423:Ear; D005260:Female; D006314:Hearing Loss, Conductive / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D012720:Severity of Illness Index; D012868:Skin Abnormalities / Q000150:complications* / Q000175:diagnosis