Audiologic Findings in Pfeiffer Syndrome

Abstract

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.

Hearing loss in syndromic craniosynostoses: Otologic manifestations and clinical findings

“…The use of ear tubes has been shown in some patient to worsen hearing and scar the tympanic membrane [84,95]. It has been shown in one study of patients with Apert syndrome that repeated tube insertion did not prevent the development of acquired hearing loss and also could accentuate the tendency to develop acquired hearing loss [96]. However, in this same study, the use of ear tubes was of benefit to some patients.…”

“…Later clinical studies of Pfeiffer syndrome affirmed that hearing loss is associated with this syndrome, the largest of which analyzed the audiologic manifestations in 20 patients. Hearing impairment is common in Pfeiffer syndrome -collectively, considering series reported here where audiometric testing was performed, hearing loss was present in 35/38 patients (92%) [32][33][34]36]. The type of hearing loss was detailed in 27 patients: 22 (81%) with conductive hearing loss, four (15%) with mixed hearing loss and one with sensorineural hearing loss (4%).…”

“…Like Apert syndrome, most patients with Pfeiffer syndrome have a purely conductive hearing loss, as a result of chronic middle-ear effusions and/or abnormal middle-ear anatomy [34]. Sensorineural hearing loss is less common in both Apert and Pfeiffer syndromes.…”

“…It is therefore worth considering tympanostomy tubes on at least one and perhaps even two occasions, particularly in patients with syndromic craniosynostosis. However, if after grommet insertion there are problems with ear discharge or if the tympanostomy tubes tend to extrude easily with quick reaccumulation of middle ear fluid, then hearing aids need to be considered as early optimization of hearing levels in this patient population is crucial [96].…”

Genetic Hearing Loss Associated with Craniofacial Abnormalities

“…Sensorineural hearing loss is less common and may be related to the effect of FGFR mutations on cranial nerve or inner-ear development. (Desai et al, 2010) …”