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中华医学超声杂志(电子版) ›› 2025, Vol. 22 ›› Issue (10) : 994 -996. doi: 10.3877/cma.j.issn.1672-6448.2025.10.014

病例报告

巨头畸形-多小脑回综合征胎儿的超声表现及遗传学分析一例
钟兴健1, 吴晓霞1, 罗彩群1, 王辉1, 陈丽媛1, 文华轩2, 袁鹰2, 廖伊梅2, 曾晴2, 李胜利2,()   
  1. 1 518000 南方医科大学妇女儿童医学中心深圳市妇幼保健院母胎医学中心
    2 518000 南方医科大学妇女儿童医学中心深圳市妇幼保健院超声科
  • 收稿日期:2025-06-13 出版日期:2025-10-01
  • 通信作者: 李胜利
  • 基金资助:
    深圳市孕产疾病与母婴健康重点实验室(ZDSYS20230626091559006)

Fetal macrocephaly-multiple cerebellar gyri syndrome: a case report on ultrasound and genetic findings

Xingjian Zhong, Xiaoxia Wu, Caiqun Luo   

  • Received:2025-06-13 Published:2025-10-01
引用本文:

钟兴健, 吴晓霞, 罗彩群, 王辉, 陈丽媛, 文华轩, 袁鹰, 廖伊梅, 曾晴, 李胜利. 巨头畸形-多小脑回综合征胎儿的超声表现及遗传学分析一例[J/OL]. 中华医学超声杂志(电子版), 2025, 22(10): 994-996.

Xingjian Zhong, Xiaoxia Wu, Caiqun Luo. Fetal macrocephaly-multiple cerebellar gyri syndrome: a case report on ultrasound and genetic findings[J/OL]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2025, 22(10): 994-996.

图1 孕29+6周胎儿巨脑畸形-多小脑回综合征的超声表现。图a示额叶、枕叶可见异常细浅沟回,呈锯齿样改变(箭头所示);图b、c示三维反转成像可见多小脑回;图d箭头分别示扣带沟及顶枕沟浅;图e三维反转成像可见外侧裂浅;图f量标示脑实质分层明显;图g示正常同孕龄胎儿扣带沟、顶枕沟;图h示正常同孕龄大脑三维反转成像
图2 孕30周胎儿多小脑回畸形(双侧)的MRI表现。图a可见外侧裂形态可;图b、c可见脑沟回增多,见众多浅细脑沟
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