克劳松综合征
鼓膜切开术
医学
腺样体切除术
中耳炎
错义突变
桑格测序
外显子组测序
阻塞性睡眠呼吸暂停
感音神经性聋
听力损失
儿科
听力学
内科学
扁桃体切除术
外科
突变
颅缝病
遗传学
生物
基因
作者
J Chen,W Li,Lu Wen,Chang Real Yang,C H Sun,Jessica Qiu,Dingjun Zha
出处
期刊:PubMed
日期:2019-09-01
卷期号:33 (9): 845-847
标识
DOI:10.13201/j.issn.1001-1781.2019.09.011
摘要
Summary Clinical data from a case of Crouzon syndrome with secretory otitis media in our department was collected and the related literatures were reviewed. Whole exome sequecing and Sanger sequencing were performed to analyze genetic cause. The 6-year old patient with Crouzon syndrome had snoring and mouth breathing during sleep for 2 years, and was found hearing loss for 2 weeks. The results of endoscopy showed adenoid hypertrophy and secretory otitis media of both ears. And CT scan proved chronic rhinosinusitis. Myringotomy and adenoidectomy were done under general anesthesia. The follow-up at 6 months showed normal sleep and hearing level. A heterozygous fibroblast growth factor receptor 2 missense mutation(c.1061C>G, p.S354C) in exon 8 was identified in this patient.
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