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Meckel-Gruber综合征1例 被引量：2

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摘要 孕妇年龄28岁,身体健康,非近亲结婚.末次月经2013年11月24日,孕12周在外院超声检查提示颅骨光环不完整,双肾体积增大转来本院.孕13周在本院行超声检查:胎儿头臀长6.9 cm,枕部颅骨缺损并脑组织膨出,四腔心切面房间隔、室间隔均未显示,仅见一组房室瓣;双肾体积增大,内充满大小不等的囊腔,符合Meckel-Gruber综合征.收入院给予米非司酮加米索药物引产.2014年3月7日流产一死婴,外观枕骨缺损,脑组织已流出,硬腭裂,腹部明显增大,双手双足均为6指(趾),见图1.尸检见胎儿单心房、单心室,双肾均增大约1.8 cm ×1.2 cm ×1.2 cm,切面为多囊状.诊断:Meckel-Gruber综合征.
作者 张蔓丽 汪龙霞 李芮冰 叶明侠 晏红 程静 卢彦平 李亚里
机构地区 解放军总医院妇产科
出处 《发育医学电子杂志》 2014年第2期116-,121,共2页 Journal of Developmental Medicine (Electronic Version)
关键词 综合征 病例 明确 基因突变 综合病症 点突变 Meckel-Gruber 植入前诊断
分类号 R596 [医药卫生—内科学]
  • 相关文献

参考文献3

  • 1BAuber,PBurfeind,SHerold,KSchoner,GSimson,RRauskolb,HRehder.A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel–Gruber syndrome[J].Clinical Genetics.2007(5)
  • 2卢彦平,李亚里.Meckel综合征研究进展[J].中华妇产科杂志,2009,44(11):873-875. 被引量：1
  • 3卢彦平,程静,刘爱军,汪龙霞,王军燕,高志英,熊莉华,袁慧军,李亚里.一对夫妇连续四次妊娠Meckel综合征患儿[J].中华围产医学杂志,2010,13(6):512-513. 被引量：3

二级参考文献41

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共引文献2

同被引文献25

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发育医学电子杂志
2014年 第2期

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