We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Congenital stapes malformation: Rare conductive hearing loss in a patient with Waardenburg syndrome.
- Authors
Melzer, Jonathan M.; Eliason, Michael; Conley, George S.
- 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.
- Subjects
KLEIN-Waardenburg syndrome; GENETIC disorders; GENETICS of ear abnormalities; STAPES; GENETICS of deafness; EAR surgery; EAR ossicles; PHENOTYPES; CONDUCTIVE hearing loss; DISEASE complications
- Publication
Laryngoscope, 2016, Vol 126, Issue 4, p992
- ISSN
0023-852X
- Publication type
journal article
- DOI
10.1002/lary.25443