Bilateral congenital cholesteatoma in branchio-oto-renal syndrome

Branchio-oto-renal syndrome is a rare autosomal dominant condition characte rized by hearing loss, branchial arch abnormalities and renal tract malform ations. We present the first reported case of branchio-oto-renal syndrome a ssociated with bilateral congenital cholesteatoma and ossicular chain abnor malities. The pathogenesis of this syndrome is described and the literature is reviewed.