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产前及产后超声检查确诊努南综合征患儿静脉导管先天性缺如

Prenatal and Postnatal Sonographic Confirmation of Congenital Absence of the Ductus Venosus in a Child with Noonan Syndrome.

作者信息

Newman Christopher L, Wanner Matthew R, Brown Brandon P

机构信息

Department of Anatomy and Cell Biology, Indiana University School of Medicine, Indianapolis, IN, USA.

Department of Radiology, Riley Hospital for Children at Indiana University Health, Indianapolis, IN, USA.

出版信息

Case Rep Radiol. 2017;2017:3068178. doi: 10.1155/2017/3068178. Epub 2017 Sep 6.

Abstract

The ductus venosus serves as an important vascular pathway for intrauterine circulation. This case presents a description of an absent ductus venosus in a female patient with Noonan syndrome, including both prenatal and postnatal imaging of the anomaly. In the setting of the anomalous vascular connection, the umbilical vein courses inferiorly to the iliac vein in parallel configuration with the umbilical artery. This finding was suspected based on prenatal imaging and the case was brought to attention when placement of an umbilical catheter was thought to be malpositioned given its appearance on radiography. Ultrasound imaging confirmed the anomalous course. This is in keeping with prior descriptions in the literature of an association between Noonan syndrome and aberrant umbilical venous drainage. This case illustrates the need for awareness of this condition by the radiologist, allowing for identification on radiographs and the recommendation for further confirmatory imaging. Further, the case illustrates the value of paying particular attention to the fetal course of the umbilical vessels in patients with suspected Noonan syndrome, as this population is particularly at risk for anomalous vasculature.

摘要

静脉导管是胎儿宫内循环的重要血管通道。本文描述了一名患有努南综合征的女性患者静脉导管缺如的情况,包括该异常情况的产前和产后影像学表现。在这种异常血管连接的情况下,脐静脉向下走行至髂静脉,与脐动脉呈平行形态。这一发现是基于产前影像学检查怀疑的,当脐静脉导管在X线片上的表现提示位置异常时,该病例引起了关注。超声成像证实了其异常走行。这与文献中先前关于努南综合征与异常脐静脉引流之间关联的描述一致。该病例表明放射科医生需要了解这种情况,以便在X线片上识别并建议进一步进行确诊性成像检查。此外,该病例还说明了对于疑似患有努南综合征的患者,特别关注脐血管的胎儿走行情况的重要性,因为这一人群出现血管异常的风险尤其高。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3faa/5606054/64dfeb211468/CRIRA2017-3068178.001.jpg

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