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Congenital stapes malformation: Rare conductive hearing loss in a patient with W aardenburg syndrome
Author(s) -
Melzer Jonathan M.,
Eliason Michael,
Conley George S.
Publication year - 2016
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1002/lary.25443
Subject(s) - conductive hearing loss , hearing loss , congenital hearing loss , waardenburg syndrome , medicine , sensorineural hearing loss , stapes , audiology , phenotype , middle ear , anatomy , biology , genetics , gene
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