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中华临床医师杂志(电子版) ›› 2024, Vol. 18 ›› Issue (06) : 604 -606. doi: 10.3877/cma.j.issn.1674-0785.2024.06.015

病例报告

Sifrim-Hitz-Weiss综合征一例
邱晓燕1, 李丽燕1, 吴毅1,()   
  1. 1. 515041 广东 汕头,汕头大学医学院第二附属医院儿科
  • 收稿日期:2024-03-26 出版日期:2024-06-15
  • 通信作者: 吴毅
  • 基金资助:
    汕头市科技计划项目(190606175268452); 2020年广东省科技专项资金(200115095878969)

Sifrim-Hitz-Weiss syndrome: a case report

Xiaoyan Qiu, Liyan Li, Yi Wu()   

  • Received:2024-03-26 Published:2024-06-15
  • Corresponding author: Yi Wu
引用本文:

邱晓燕, 李丽燕, 吴毅. Sifrim-Hitz-Weiss综合征一例[J]. 中华临床医师杂志(电子版), 2024, 18(06): 604-606.

Xiaoyan Qiu, Liyan Li, Yi Wu. Sifrim-Hitz-Weiss syndrome: a case report[J]. Chinese Journal of Clinicians(Electronic Edition), 2024, 18(06): 604-606.

Sifrim-Hitz-Weiss综合征(Sifrim-Hitz-Weiss syndrome,SIHIWES)是一种由CHD4基因突变所导致的遗传性疾病,为常染色体显性遗传,于2016年被Sifrim、Hitz和Weiss首次报道而命名。CHD4基因的突变可有错义、框内插入、缺失突变等。SIHIWES极其罕见,至今为止国际上报道数十例,国内仅报道2例。SIHIWES主要有体格及神经心理全面性发育迟缓、非重度智力障碍、颅内结构异常、先天性心脏病、骨骼畸形、听力障碍、眼视光学异常、性腺功能减退等表现。患儿可能存在非特异性的特殊面容,如前额宽、方型脸、眼距增宽、鼻梁低平、小耳畸形等。我们应用全基因组测序对1例先天发育落后的患儿进行了检测,其结果报告如下。

图1 患儿基因点突变及父母基因一代验证
1
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