Apert syndrome and hearing loss with ear anomalies: a case report and literature review

Acrocephalosyndactyly Type I, or Apert syndrome is a congenital disorder characterized by craniosynostosis and syndactyly. When hearing loss occurs, it is usually bilateral and conductive, often attributable to congenital stapes fixation. In determining treatment, the risk of gusher with stapedectom...

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Bibliographic Details
Published in:International journal of pediatric otorhinolaryngology 2004-04, Vol.68 (4), p.495-501
Main Authors: Huang, Fleur, Sweet, Robert, Tewfik, Ted L.
Format: Article
Language:English
Subjects:
Acrocephalosyndactylia - complications
Acrocephalosyndactyly
Adult
Apert syndrome
Audiometry, Pure-Tone
Auditory Threshold
Conductive hearing loss
Congenital footplate fixation
Ear - abnormalities
Ear, Inner - abnormalities
Female
Gusher
Hearing Loss, Conductive - etiology
Humans
Perilymphatic fistula
Tomography, X-Ray Computed
Type I
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Description
Summary:Acrocephalosyndactyly Type I, or Apert syndrome is a congenital disorder characterized by craniosynostosis and syndactyly. When hearing loss occurs, it is usually bilateral and conductive, often attributable to congenital stapes fixation. In determining treatment, the risk of gusher with stapedectomy becomes an important consideration. We present an adult with Apert syndrome and hearing loss, with particular emphasis on a progressive conductive component in one ear. Surgical exploration failed to reveal any definite middle ear abnormality and no stapedectomy was performed. A theory on the pathogenesis of the conductive loss in our patient follows a brief review of the literature on gusher in patients with ear malformations.
ISSN:0165-5876
1872-8464
DOI:10.1016/j.ijporl.2003.11.010