小耳畸形-颌面发育不全儿童的阻塞性睡眠呼吸暂停

Obstructive sleep apnea in microtia children with maxillofacial dysostosis

先天性小耳畸形(microtia)是耳廓的发育不全畸形,常常伴有听力缺陷,同时由于耳廓、颌面骨和相关神经肌肉结构起源于第一、二鳃弓,小耳畸形患儿常合并颌面部发育不全,如Treacher Collins综合征(Treacher Collins syndrome,TCS,OMIM 154500)、Goldenhar综合征(Goldenhar syndrome,GS,OMIM 164210)和Nager综合征(Nager syndrome,GS.OMIM 164210)和Nager综合征(Nager syndrome.NS,OMIM 154400)等。

Children with microtia are often associated with maxillofacial dysostosis, such as Treacher Collins syndrome, Goldenhar syndrome, and Nager syndrome, and they are prone to suffer from obstructive sleep apnea(OSA). Obstruction widely occurred in the upper airway is the main mechanism of OSA in these children, and dysplasia of the pharynx and neurodevelopmental abnormalities may also participate. Early diagnosis requires symptom screening and polysomnography. Imaging techniques and endoscopy can be adopted to fully assess the upper airway status to guide further treatment. According to the child’s condition and the main obstruction site, treatment methods include maxillofacial deformity correction, continuous positive pressure ventilation and tracheotomy. OSA in microtia children with maxillofacial dysostosis needs to be identified and treated in time to reduce the adverse effects on the growth and development of children.