发育医学电子杂志 2022, Vol. 10 Issue (2): 137-139 DOI: 10.3969/j.issn.2095-5340.2022.02.010 |
临床遗传
病例报告
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新发CHD7 基因突变致CHARGE 综合征一例分析 |
江燕 徐瑞峰 王卫凯 王璐 杨永鹏 魏林 张庆华 安彩霞 |
1. 甘肃省妇幼保健院 儿童急救中心,甘肃 兰州 730050;2. 甘肃省妇幼保健院 医
学遗传中心,甘肃 兰州 730050
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A case analysis of CHARGE syndrome caused by a novel CHD7 mutationt |
Jiang Yan, Xu Ruifeng, Wang Weikai, et al |
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摘要 患儿,女,出生体质量3.2 kg,自1月龄始因“喉中痰鸣、喂养困难、体质量不增”反复于甘肃省妇幼保健院住院治疗3次。首次入院时体质量3.3kg,皮下脂肪欠丰满,弹性欠佳,双侧耳廓发育异常(较小且呈三角样),听力筛查未通过,胸廓畸形,呈漏斗状,双肺呼吸音粗,可闻及痰鸣音,胸骨左缘第二肋间可闻及连续性机器样杂音。腹部及神经系统查体未见明显异常。入院后行电子喉镜及纤维支气管镜检查发现患儿左侧后鼻腔闭塞、喉软化症(重度)、鼻咽部软组织塌陷、支气管发育异常(左肺上叶开口略狭窄);心脏超声:房间隔缺损2 mm,室间隔肌部多发缺损,最大约2.5 mm,动脉导管未闭:6 mm。头颅磁共振成像检查未见明显异常.
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关键词:
综合征
临床表现
基因
新发突变
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收稿日期: 2021-05-08
发布日期: 2022-03-31
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基金资助: 兰州市人才创新创业项目(2018-RC-95) |
通讯作者:
安彩霞
E-mail: acx222222@163.com
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