JOURNAL ARTICLE
REVIEW

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

Fleur Huang, Robert Sweet, Ted L Tewfik
International Journal of Pediatric Otorhinolaryngology 2004, 68 (4): 495-501
15013619
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.

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