Audiologic and otologic characteristics of Pfeiffer syndrome.
OBJECTIVE
To examine the prevalence and type of hearing loss and otopathology in patients with Pfeiffer syndrome.


METHODS
Retrospective and prospective study design.


METHODS
A pediatric tertiary care hospital.


METHODS
Nine patients-ranging in age from 2 to 12 years.


METHODS
Hearing levels and middle ear function were assessed using standard procedures. Otoscopy was also conducted. Computerized tomography (CT) scans of the temporal bone were obtained to study outer, middle, and inner ear anatomy.


RESULTS
Hearing loss was present in eight of the nine patients. The degree of loss varied but was moderate to severe in most patients. Seven patients had conductive hearing loss and one had mixed loss; none had purely sensorineural loss. Four patients had a history of middle ear effusion. Primary CT findings showed stenosis and/or atresia of the external auditory canal, hypoplasia of the middle ear cavity, and an enlarged middle ear cavity. The ossicles were hypoplastic in a few cases. With one exception, inner ear anatomy was normal.


CONCLUSIONS
Otologic malformations and hearing loss are features of Pfeiffer syndrome. Major factors contributing to hearing loss were anatomic abnormalities of the external auditory canal and middle ear, which can be identified by computerized tomography. Otitis media was also present and may have caused or contributed to the hearing loss. We recommend that the computerized tomographic study, which is often used to evaluate and plan treatment for the craniofacial skeleton, be extended to include a thorough evaluation of otologic structures in patients with Pfeiffer syndrome.
Vallino-Napoli
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LD
Craniofacial Treatment and Research Centre, Hospital for Sick Children in Toronto, Ontario.
D000158:Acoustic Impedance Tests; D000168:Acrocephalosyndactylia / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D001301:Audiometry, Pure-Tone; D002648:Child; D002675:Child, Preschool; D004431:Ear, External / Q000002:abnormalities*; D004432:Ear, Middle / Q000002:abnormalities*; D005260:Female; D034381:Hearing Loss / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D008297:Male; D010035:Otitis Media, Suppurative / Q000209:etiology; D011446:Prospective Studies; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed