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Congenital cholesteatoma and malformations of the facial nerve: Rare manifestations of the BOR syndrome

✍ Scribed by Graham, Gail E.; Allanson, Judith E.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 26 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990903)86:1<20::aid-ajmg5>3.0.co;2-h

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✦ Synopsis

We describe a 14-month-old girl with unilateral congenital cholesteatoma and anomalies of the facial nerve in addition to the more common branchial arch, otic, and renal malformations comprising the branchiooto-renal (BOR) syndrome. Her mother also has the BOR syndrome and unilateral duplication of the facial nerve. This is the first study of a BOR patient with congenital cholesteatoma and the second family in which cholesteatoma and anomalies of the facial nerve are described in patients with the BO/ BOR syndrome. We review the congenital cholesteatoma literature and discuss hypotheses for the pathogenesis of this entity in light of this new report. Am.

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