Related Experiment Video
Updated: Jun 8, 2026
11:39
Assessment of Audio-Tactile Sensory Substitution Training in Participants with Profound Deafness Using the Event-Related Potential Technique
Published on: September 7, 2022
Audiologic findings in Pfeiffer syndrome
Urmen Desai1, Heather Rosen, John B Mulliken
1Department of Otorhinolaryngology-Head and Neck Surgery, Tufts Medical Center and Tufts University School of Medicine, Boston, Massachusetts, USA.
The Journal of Craniofacial Surgery
|September 22, 2010
Summary
All patients with Pfeiffer syndrome (PS) experience hearing loss, most commonly conductive. This hearing impairment can be severe, necessitating amplification for nearly half of affected individuals.
Area of Science:
- Genetics
- Otolaryngology
- Audiology
Background:
- Hearing loss is documented in craniosynostotic syndromes.
- Hearing loss in Pfeiffer syndrome (PS) is not well-defined.
Purpose of the Study:
- To characterize otologic and audiologic findings in Pfeiffer syndrome patients.
Main Methods:
- Retrospective chart review of PS patients over 30 years.
- Inclusion criteria: confirmed PS diagnosis and formal audiologic testing.
- Diagnostic confirmation via FGFR1/FGFR2 mutations or clinical findings.
Main Results:
- All 20 included PS patients had hearing loss.
- 14 (70%) had conductive loss; 3 (15%) had mixed conductive/sensorineural loss.
- 9 patients (45%) required amplification for permanent hearing loss.
Conclusions:
- Pfeiffer syndrome consistently involves hearing loss, with variable severity and type.
- Conductive hearing loss, likely due to structural issues, is most prevalent.
- Sensorineural hearing loss may stem from FGFR mutations affecting neural or inner ear development.
