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TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect.全外显子测序在中国特雷彻·柯林斯综合征家系中鉴定的 TCOF1 致病性变异体及听力康复效果。
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6
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7
[Precision diagnosis and treatment for Treacher Collins syndrome:clinical perspectives].
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10
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[小耳畸形合并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].

作者信息

Gu Wei, Fan Yue, Huo Hong, Chen Xiaowei

出版信息

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Apr;35(4):371-374;379. doi: 10.13201/j.issn.2096-7993.2021.04.020.

DOI:10.13201/j.issn.2096-7993.2021.04.020
PMID:33794641
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10128449/
Abstract

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.

摘要

小耳症患儿常伴有颌面发育不全,如特雷彻·柯林斯综合征、戈德哈综合征和纳格尔综合征,且易患阻塞性睡眠呼吸暂停(OSA)。上气道广泛存在的阻塞是这些患儿发生OSA的主要机制,咽发育异常和神经发育异常也可能参与其中。早期诊断需要进行症状筛查和多导睡眠监测。可采用影像学技术和内镜检查全面评估上气道状况,以指导进一步治疗。根据患儿病情及主要阻塞部位,治疗方法包括颌面畸形矫正、持续气道正压通气和气管切开术。小耳症合并颌面发育不全患儿的OSA需要及时识别和治疗,以减少对患儿生长发育的不良影响。