Bilateral congenital cholesteatoma in branchio-oto-renal syndrome.
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.
Worley
G A
GA
Department of Otolaryngology, Head and Neck Surgery, Great Ormond Street Hospital for Children, London, UK.
Vats
A
A
Harcourt
J
J
Albert
D M
DM
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