Acrocephalosyndactyly (Apert's Syndrome): Temporal Bone Findings

Abstract

The otologic manifestation of acrocephalosyndactyly (Apert's syndrome) has usually consisted of bilateral conductive hearing impairment. Invariably, fixation of the stapes footplate has been found at tympanotomy. Manipulation or removal of the stapes has resulted in a copious flow of fluid from the vestibule, suggesting an unusually patent cochlear aqueduct with escape of cerebrospinal fluid. Histologic examination of a temporal bone from an infant with acrocephalosyndactyly showed cartilaginous fixation of the stapes footplate. The lumen of the cochlear aqueduct was not unusually large or widely patent in this case.