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Audiologic and otologic characteristics of Pfeiffer syndrome
1Craniofacial Treatment and Research Centre, Hospital for Sick Children in Toronto, Ontario.
Insights
Pfeiffer syndrome frequently causes hearing loss due to ear malformations. Computerized tomography (CT) scans can identify these anatomical issues, aiding in diagnosis and treatment planning for patients with Pfeiffer syndrome.
Area of Science:
- Otolaryngology
- Medical Genetics
- Pediatric Audiology
Background:
- Pfeiffer syndrome is a genetic disorder characterized by craniosynostosis and other skeletal abnormalities.
- Hearing impairment is a recognized complication, but the specific types and prevalence of hearing loss and otopathology require further elucidation.
Purpose of the Study:
- To investigate the prevalence and characteristics of hearing loss.
- To identify the types of otopathology in pediatric patients with Pfeiffer syndrome.
Main Methods:
- A combined retrospective and prospective study was conducted at a pediatric tertiary care hospital.
- Nine patients (ages 2-12) underwent audiological assessments, otoscopy, and temporal bone CT scans to evaluate ear anatomy.
Main Results:
- Eight of nine patients exhibited hearing loss, predominantly moderate to severe conductive or mixed types.
- CT scans revealed external auditory canal stenosis/atresia, middle ear hypoplasia, and ossicle abnormalities in most patients.
- Inner ear anatomy was largely normal, but middle ear effusion and otitis media were noted.
Conclusions:
- Otologic malformations and associated hearing loss are significant features of Pfeiffer syndrome.
- Anatomical abnormalities of the external auditory canal and middle ear are primary contributors to hearing loss.
- CT imaging is crucial for identifying these otologic structures and guiding management in Pfeiffer syndrome patients.
Objective:
To examine the prevalence and type of hearing loss and otopathology in patients with Pfeiffer syndrome.
Design:
Retrospective and prospective study design.
Setting:
A pediatric tertiary care hospital.
Subjects:
Nine patients-ranging in age from 2 to 12 years.
Method:
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.
Conclusion:
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.