Kim Dohee, Yoon Joonsik, Suh Myung-Whan, Ho Lee Jun, Kyun Park Moo
Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University College of Medicine, Seoul, Republic of Korea.
Sensory Organ Research Institute, Seoul National University Medical Research Center, Seoul, Republic of Korea.
J Int Adv Otol. 2024 Nov 25;20(6):517-522. doi: 10.5152/iao.2024.241523.
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.
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.
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.
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.
软骨发育不全是涉及身材矮小的最常见骨骼发育异常形式，需要多学科方法，包括耳科学和听觉康复。尽管如此，软骨发育不全患者听力损失和耳科表现的临床特征仍不明确。本研究旨在探讨软骨发育不全患者耳科疾病的患病率和治疗结果。
对1999年至2023年在韩国3家机构的耳鼻喉科门诊就诊的70例患者的病历进行回顾性分析。分析人口统计学和临床特征，包括听力测定结果、影像学检查、治疗方式和结果。
在53例接受听力测定的患者中，26例表现为传导性听力损失，2例为混合性听力损失，4例为感音神经性听力损失。51例患者（72.9%）至少有一次中耳积液。33例患者（47.1%）进行了鼓膜切开术或置管术，16例患者（22.9%）需要多次置管。18例患者（25.7%）有腺样体肥大，16例（22.9%）接受了腺样体切除术。9例患者（12.9%）进行了颞骨计算机断层扫描（TBCT）以评估中耳。计算机断层扫描（CT）显示颈静脉球高位和内耳结构旋转。2例患者（2.9%）被诊断为慢性化脓性中耳炎伴胆脂瘤，均接受了鼓室乳突切除术。
一半的软骨发育不全儿童存在听力损失，最常见的原因是传导性听力损失。这些儿童中有四分之三表现为中耳积液，通常需要置管和腺样体切除术。鉴于这些儿童存在解剖变异，如颈静脉球高位以及内耳和面神经结构旋转，中耳手术时必须采取谨慎的方法。
