Hearing and otopathology in Crouzon syndrome

Abstract

Objectives: To better establish the incidence and types of otologic and auditory abnormalities in patients with Crouzon syndrome. Study Design: Retrospective chart review of the otologic and auditory findings of patients diagnosed with Crouzon syndrome who were seen at our institution between 1978 and 1994. Methods: Charts were reviewed and data recorded on patient sex, family history, appearance, auricular abnormalities, auditory findings, history of otologic disease, and follow-up. Results: Nineteen patients were identified with the diagnosis of Crouzon syndrome: 12 males and 7 females. Twelve cases represented spontaneous mutations. Eight patients had abnormalities involving the external ear: from mal-alignment of the pinna (6 patients) to external auditory canal atresia (1 patient). Ten patients had documented hearing loss: 4 with conductive hearing loss, 2 with a mixed hearing loss, and 4 with a sensorineural hearing loss, the etiologies of which ranged from ossicular fixation and serous otitis media to unknown sensorineural deficits. Conclusions: Patients with Crouzon syndrome can exhibit various pathological features of the ear. Although external malformations are unusual, middle ear disease and hearing loss are common. We advocate close otologic and audiologic follow-up in these patients and note a higher frequency of sensorineural hearing loss than previously reported. Recent genetic advances may allow more accurate and earlier diagnosis of this syndrome.