Congenital stapes malformation: Rare conductive hearing loss in a patient with Waardenburg syndrome
| Autor: | Jonathan M. Melzer, George S. Conley, Michael J. Eliason |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
medicine.medical_specialty
Waardenburg syndrome business.industry Audiology medicine.disease Congenital hearing loss 030218 nuclear medicine & medical imaging Conductive hearing loss 03 medical and health sciences 0302 clinical medicine medicine.anatomical_structure Otorhinolaryngology Otology Temporal bone otorhinolaryngologic diseases medicine Middle ear Sensorineural hearing loss business 030217 neurology & neurosurgery Stapes |
| Zdroj: | The Laryngoscope. 126:992-995 |
| ISSN: | 0023-852X |
| DOI: | 10.1002/lary.25443 |
| Popis: | 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. Laryngoscope, 126:992–995, 2016 |
| Databáze: | OpenAIRE |
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