Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial syndrome.
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.
Vantrappen
G
G
Department of Oto-Rhino-Laryngology, Head and Neck Surgery, University Hospital Leuven, Belgium.
Feenstra
L
L
Fryns
J P
JP
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