title: Congenital stapes malformation: Rare conductive hearing loss in a patient with Waardenburg syndrome.
abstract: Waardenburg syndrome is a known autosomal dominant cause of congenital hearing loss. It is characterized by a distinctive phenotypic appearance and often involves sensorineural hearing loss. Temporal bone abnormalities and inner ear dysmorphisms have been described in association with the disease. However, middle ear abnormalities as causes of conductive hearing loss are not typically seen in Waardenburg syndrome. We discuss a case of an 8-year-old female who meets diagnostic criteria for Waardenburg syndrome type 3 and who presented with a bilateral conductive hearing loss associated with congenital stapes fixation. We discuss management strategy in this previously unreported phenotype.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Naval Medical Center, Portsmouth, Virginia, U.S.A.
authors.forename: Jonathan M
authors.initials: JM
authors.lastname: Melzer
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Naval Medical Center, Portsmouth, Virginia, U.S.A.
authors.forename: Michael
authors.initials: M
authors.lastname: Eliason
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Naval Medical Center, Portsmouth, Virginia, U.S.A.
authors.forename: George S
authors.initials: GS
authors.lastname: Conley
mesh_terms: D002648:Child; D005260:Female; D006314:Hearing Loss, Conductive / Q000209:etiology* / Q000601:surgery*; D006801:Humans; D010641:Phenotype; D013199:Stapes / Q000002:abnormalities*; D013201:Stapes Surgery; D014849:Waardenburg Syndrome / Q000150:complications*
keywords: Congenital anomalies; middle ear; otology; pediatric hearing loss