Audiologic findings in Pfeiffer syndrome.

Hearing loss has been described in patients with certain craniosynostotic syndromes but is poorly defined in Pfeiffer syndrome (PS). Our objective was to characterize the otologic and audiologic findings in PS. The records of PS patients evaluated at our craniofacial center over a 30-year period were culled. Only patients with a confirmed diagnosis and formal audiologic examination were included. Diagnostic criteria were characteristic mutations in fibroblast growth factor receptor 1 or 2 (FGFR1, FGFR2) or, in the absence of genetic testing, typical clinical findings of PS as determined by a clinical geneticist or the most senior author. Twenty patients met the inclusion criteria, and all had hearing loss. Twenty patients had traditional audiologic testing: 14 (70%) had pure conductive loss (minor to severe), and 3 (15%) had a mixed conductive/sensorineural loss (minor to severe). Two additional patients had hearing loss by Behavioral Observational Audiometry (sound fields method). One patient with early conductive hearing loss was subsequently determined to have a pure sensorineural deficit. Nine patients (45%) had permanent hearing loss significant enough to require audiologic amplification. All patients with PS demonstrated hearing loss, although the severity and the anatomic basis (ie., neural vs conductive) were variable. Conductive hearing loss, possibly caused by structural abnormalities, was most common. Sensorineural hearing loss was less common and may be related to the effect of FGFR mutations on cranial nerve and/or inner-ear development.