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
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.