Hearing and otopathology in Crouzon syndrome

Objectives: To better establish the incidence and types of otologic anal au ditory abnormalities in patients with Crouzon syndrome. Study Design: Retro spective chart review of the otologic and auditory findings of patients dia gnosed with Crouzon syndrome who were seen at our institution between 1978 and 1994, Methods: Charts were reviewed and data recorded on patient sex, f amily history, appearance, auricular abnormalities, auditory findings, hist ory of otologic disease, and follow-up. Results: Nineteen patients were ide ntified with the diagnosis of Crouzon syndrome: 12 males and 7 females, Twe lve cases represented spontaneous mutations. Eight patients had abnormaliti es involving the external ear: from malalignment 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 fr om ossicular fixation and serous otitis media to unknown sensorineural defi cits. Conclusions: Patients with Crouzon syndrome can exhibit various patho logical features of the ear. Although external malformations are unusual, m iddle ear disease and hearing loss are common. We advocate close otologic a nd audiologic follow-up in these patients and note a higher frequency of se nsorineural hearing loss than previously reported. Recent genetic advances may allow more accurate and earlier diagnosis of this syndrome.