Otologic Manifestations in Patients with Achondroplasia: A Multicenter Study

Area of Science:

• Otolaryngology
• Genetics
• Pediatrics

Background:

• Achondroplasia is the most common skeletal dysplasia causing short stature.
• Otologic manifestations and hearing loss in achondroplasia patients are not well-defined.
• A multidisciplinary approach including otology is crucial for achondroplasia management.

Purpose of the Study:

• To investigate the prevalence of otologic disease in achondroplasia patients.
• To analyze treatment outcomes for hearing loss and related otologic conditions.
• To highlight the need for specialized otologic care in achondroplasia.

Main Methods:

• Retrospective review of 70 achondroplasia patients' medical records (1999-2023).
• Analysis of demographic data, audiometric findings, imaging, and treatment modalities.
• Evaluation of treatment outcomes for otologic conditions.

Main Results:

• 50% of patients experienced hearing loss (mostly conductive).
• 73% had middle ear effusion; 47% underwent ventilation tube insertion.
• Anatomical variations (high jugular bulb, rotated inner ear) were noted on CT scans.

Conclusions:

• Conductive hearing loss and otitis media with effusions are highly prevalent in achondroplasia.
• Surgical interventions like ventilation tube insertion and adenoidectomy are frequently required.
• Anatomical variations necessitate a cautious surgical approach in the middle ear.