title: Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss.
abstract: Spondyloepiphyseal dysplasia is a disorder characterized by abnormalities of growth. Previous studies of this disorder have identified a significant incidence of associated hearing loss. Hearing loss has been reported to occur in 25 to 30% of affected patients. To date, all reports of associated hearing loss have indicated the presence of a sensorineural component. In this article, we report the case of a child who was diagnosed with spondyloepiphyseal dysplasia congenita and who was found to have a significant conductive hearing loss with a Carhart's notch, indicating the likely presence of stapes footplate fixation. We also review the diagnosis of this condition and the literature associated with hearing loss as it occurs with this disorder.
authors.affiliation: Department of Otolaryngology, University of Massachusetts Medical Center, Worcester 01655, USA.
authors.forename: R
authors.initials: R
authors.lastname: Dahiya
authors.forename: S
authors.initials: S
authors.lastname: Cleveland
authors.forename: C A
authors.initials: CA
authors.lastname: Megerian
mesh_terms: D001299:Audiometry; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006310:Hearing Aids; D006314:Hearing Loss, Conductive / Q000151:congenital / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D006801:Humans; D010009:Osteochondrodysplasias / Q000150:complications* / Q000151:congenital* / Q000175:diagnosis; D013199:Stapes / Q000002:abnormalities