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中华医学超声杂志(电子版) ›› 2025, Vol. 22 ›› Issue (04) : 379 -382. doi: 10.3877/cma.j.issn.1672-6448.2025.04.015

病例报告

Pallister-Killian 综合征产前超声表现一例
陶佳1, 朱庆莉1, 戚庆炜2, 孝梦甦1, 欧阳云淑1,()   
  1. 1. 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. 中国医学科学院 北京协和医学院 北京协和医院产科中心
  • 收稿日期:2025-03-07 出版日期:2025-04-01
  • 通信作者: 欧阳云淑
  • 基金资助:
    中央高水平医院临床科研项目(2022-PUMCH-B-065)

Prenatal ultrasonic manifestations of Pallister-Killian syndrome:a case report

Jia Tao, Qingli Zhu, Qingwei Qi, Mengsu Xiao, Yunshu OuYang()   

  • Received:2025-03-07 Published:2025-04-01
  • Corresponding author: Yunshu OuYang
引用本文:

陶佳, 朱庆莉, 戚庆炜, 孝梦甦, 欧阳云淑. Pallister-Killian 综合征产前超声表现一例[J/OL]. 中华医学超声杂志(电子版), 2025, 22(04): 379-382.

Jia Tao, Qingli Zhu, Qingwei Qi, Mengsu Xiao, Yunshu OuYang. Prenatal ultrasonic manifestations of Pallister-Killian syndrome:a case report[J/OL]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2025, 22(04): 379-382.

图1 Pallister-Killian 综合征胎儿颈后皮肤褶皱增厚超声图像。NF 厚约0.89 cm
图2 Pallister-Killian 综合征胎儿法洛四联症合并左肺动脉异常起源超声图像。图a 示右心室流出道切面见右肺动脉发自右心室;图b 示肺动脉瓣环处直径约0.24 cm;图c 示左肺动脉发自升主动脉左侧壁;图d 示左心室流出道切面示主动脉根部宽约0.34 cm,骑跨于室间隔,骑跨率约50%,其前壁与室间隔上段回声连续性中断约0.21 cm 注:AO 为主动脉;RPA 为右肺动脉;LPA 为左肺动脉;LV 为左心室;RV 为右心室;LA 为左心房
图3 Pallister-Killian 综合征胎儿颜面及颅内异常超声图像。图a 示眼距增宽:内眼距约1.6 cm,外眼距约3.7 cm;图b 示颜面正中矢状切面及三维图像示下颌略后缩,上唇前凸于鼻前方;图c 示鼻前组织较厚:鼻骨长约0.70 cm,鼻前组织厚约0.66 cm;图d 示侧脑室稍增宽:远场左侧侧脑室宽约0.94 cm
图4 Pallister-Killian 综合征双侧肾盂增宽超声图像。双侧肾盂均宽约0.6 cm 注:R 为右侧;L 为左侧
图5 Pallister-Killian 综合征四肢短小超声图像。图a 示股骨长约3.03 cm;图b 示肱骨长约2.75 cm,均低于第1 百分位数
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