Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome.
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 branchio-oto-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.
Graham
G E
GE
Department of Medical Genetics, Alberta Children's Hospital and University of Calgary, Alberta, Canada. gailg@ach.ucalgary.ca
Allanson
J E
JE
D000328:Adult; D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics; D002781:Cholesteatoma / Q000151:congenital* / Q000235:genetics; D005154:Facial Nerve / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009679:Nuclear Family; D010641:Phenotype