Abstract：
Myhre syndrome (MS) is a rare genetic condition that presents with multiple genetic anomalies including cleft lip and palate and Eustachian tube dysfunction. These patients are at a high risk for airway scarring from intubation and mucosal inflammation. Hearing loss (conductive or mixed, of varying severity) is a common comorbidity in these patients, the exact etiology of which is still unclear. We present the cases of 2 unrelated children with MS who suffered progressive mixed hearing loss from fibrosis and obliteration of the middle ear spaces. Both patients had multiple sets of ear tubes that demonstrated early extrusion. The older patient underwent bone conduction implantation at age 11 which resulted in dramatic improvement of speech recognition and interactive skills. The other younger patient demonstrates a similar trajectory but has not yet undergone implantation. Otolaryngologists should take a cautious approach to surgery of the eardrum and middle ear to avoid unnecessary induction of fibrosis in this susceptible patient population. These cases highlight a newly described etiology for hearing loss and suggest a benefit to bone conduction implantation.
摘要：
Myhre综合征（MS）是一种罕见的遗传病，表现为多种遗传异常，包括唇腭裂和咽鼓管功能障碍。这些患者由于插管和粘膜炎症而存在气道瘢痕形成的高风险。听力损失（传导性或混合性，不同严重程度)是这些患者的常见合并症，其确切病因尚不清楚。我们介绍了2例无关的MS儿童，他们因纤维化和中耳间隙闭塞而遭受进行性混合性听力损失。两名患者都有多组耳管，表现出早期挤压。年龄较大的患者在11岁时接受了骨传导植入，从而大大提高了语音识别和交互技能。另一名年轻患者表现出类似的轨迹，但尚未进行植入。耳鼻喉科医师应采取谨慎的方法对耳膜和中耳进行手术，以避免该易感患者人群中不必要的纤维化诱导。这些病例突出了新描述的听力损失的病因，并暗示了骨传导植入的益处。
