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中华医学超声杂志(电子版) ›› 2021, Vol. 18 ›› Issue (03) : 334 -336. doi: 10.3877/cma.j.issn.1672-6448.2021.03.017

所属专题: 经典病例 文献

病例报告

Meckle-Gruber综合征的早期超声诊断二例并文献复习
牛梓涵1, 欧阳云淑1, 孟华1, 吕珂1,(), 戚庆炜2, 姜玉新1   
  1. 1. 100730 中国医学科学院北京协和医学院 北京协和医院超声医学科
    2. 100730 北京协和医院妇产科
  • 收稿日期:2019-11-14 出版日期:2021-03-01
  • 通信作者: 吕珂

Ultrasound characteristics of early Meckle-Gruber syndrome: report of two cases and a literature review

Zihan Niu1, Yunshu Ouyang1, Hua Meng1   

  • Received:2019-11-14 Published:2021-03-01
引用本文:

牛梓涵, 欧阳云淑, 孟华, 吕珂, 戚庆炜, 姜玉新. Meckle-Gruber综合征的早期超声诊断二例并文献复习[J]. 中华医学超声杂志(电子版), 2021, 18(03): 334-336.

Zihan Niu, Yunshu Ouyang, Hua Meng. Ultrasound characteristics of early Meckle-Gruber syndrome: report of two cases and a literature review[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2021, 18(03): 334-336.

图1 胎儿1超声及大体病理检查图像。图a孕9周4天,胎儿颅内可见一无回声区,范围约0.5 cm×0.5 cm;图b孕11周3天,胎儿颅骨光环连续性中断约0.3 cm;颅内可见混合回声区,范围约2.0 cm×2.0 cm;图c胎儿引产后可见颅骨枕部脑膜膨出(箭头所示)
图2 胎儿2超声检查及大体病理图像。图a示孕17周3天,胎儿颅骨光环不完整,枕部脑组织向外膨出,范围约2.0 cm×1.9 cm;图b示胎儿手多指;图c示胎儿双肾体积增大伴髓质多发囊肿;图d示引产后可见胎儿颅骨缺失,枕部突出脑回样结构;图e示胎儿手六指;图f示胎儿肾体积增大、可见多发囊泡
表1 2例孕妇及胎儿相关临床资料
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