Mediterr J Otol 2006:2(2):83-87

Otologic Features of Apert’s Syndrome: A Case Report

Diego Zanetti, Michela Piccioni

Otolaryngology Department, University of Brescia, Brescia, Italy  diego_zanetti@iol.it

Apert’s syndrome, or acrocephalosyndactyly, type I, is a rare cranioskeletal disorder, inherited through a dominant trait, with frequent involvement of the middle ear. The most frequent audiologic presentation is a conductive hearing loss, the etiopathogenesis of which is attributable to congenital ossicular malformations, stapes ankylosis, or the common recurrent middle ear effusion

The authors review the literature and present the case of a 13-year-old girl with Apert’s syndrome in whom repeated myringotomies with grommet insertions achieved a significant hearing gain but were unable to close the air-bone gap. A computerized tomography scan of the temporal bones evidenced several malformations of the skull and petrous pyramid. An exploratory tympanotomy was not performed out of concern for the high, dehiscent jugular bulb and dehiscent fallopian canal. No progression of conductive hearing loss was observed during an 8-year follow-up, but complete closure of the conductive gap was never obtained