title: Bilateral congenital cholesteatoma in branchio-oto-renal syndrome.
abstract: Branchio-oto-renal syndrome is a rare autosomal dominant condition characterized by hearing loss, branchial arch abnormalities and renal tract malformations. We present the first reported case of branchio-oto-renal syndrome associated with bilateral congenital cholesteatoma and ossicular chain abnormalities. The pathogenesis of this syndrome is described and the literature is reviewed.
authors.affiliation: Department of Otolaryngology, Head and Neck Surgery, Great Ormond Street Hospital for Children, London, UK.
authors.forename: G A
authors.initials: GA
authors.lastname: Worley
authors.forename: A
authors.initials: A
authors.lastname: Vats
authors.forename: J
authors.initials: J
authors.lastname: Harcourt
authors.forename: D M
authors.initials: DM
authors.lastname: Albert
mesh_terms: D019280:Branchio-Oto-Renal Syndrome / Q000150:complications* / Q000000981:diagnostic imaging; D018424:Cholesteatoma, Middle Ear / Q000150:complications* / Q000151:congenital* / Q000000981:diagnostic imaging; D004429:Ear Ossicles / Q000002:abnormalities*; D005260:Female; D006312:Hearing Loss, Bilateral / Q000000981:diagnostic imaging / Q000209:etiology*; D006801:Humans; D007223:Infant; D014057:Tomography, X-Ray Computed