Otologic Manifestations in Patients with Achondroplasia: A Multicenter Study.

Abstract

Background: Achondroplasia, the most prevalent form of skeletal dysplasia involving short stature, necessitates a multidisciplinary approach that includes otology and auditory rehabilitation. Despite this, the clinical characteristics of hearing loss and otologic manifestations in achondroplasia patients remain poorly defined. This study aimed to explore the prevalence and treatment outcomes of otologic disease in individuals with achondroplasia.

Methods: A retrospective review of medical records was conducted for 70 patients who visited the otolaryngology clinic at 3 institutions in South Korea from 1999 to 2023. Demographic and clinical characteristics, including audiometric findings, imaging studies, treatment modalities, and outcomes, were analyzed.

Results: Among 53 patients who underwent audiometry, 26 showed conductive hearing loss, 2 had mixed-type hearing loss, and 4 had sensorineural hearing loss. Fifty-one patients (72.9%) had middle ear effusion at least once. Myringotomy or ventilation tube insertion was performed on 33 patients (47.1%), and 16 patients (22.9%) required multiple insertions. Eighteen patients (25.7%) had adenoid hypertrophy, and 16 (22.9%) underwent adenoidectomy. Temporal bone computed tomography (TBCT) scans were taken in 9 patients (12.9%) for middle ear evaluation. Computed tomography (CT) scans showed a high jugular bulb and rotated inner ear structures. Chronic otitis media with cholesteatoma was diagnosed in 2 patients (2.9%), in whom tympanomastoidectomy was performed.

Conclusion: Half of the children with achondroplasia experienced hearing loss, most commonly due to conductive hearing loss. Threequarters of these children exhibited otitis media with effusions, often necessitating the insertion of a ventilation tube and adenoidectomy. Given the anatomical variations present in these children, such as a high jugular bulb and rotated structures of the inner ear and facial nerve, a cautious approach is essential when performing middle ear surgery.