以严重羊水过少作为肾裂综合征的早期产前表现——两代人的病例报告
Resolving severe oligohydramnios as an early prenatal presentation of renal coloboma syndrome-A report of two generations.
作者信息
Nguyen Andrew, Campagnolo Carla, Hardy Ghislain, Saleh Maha
机构信息
Schulich School of Medicine and Dentistry University of Western Ontario London ON Canada.
Department of Paediatrics Division of Genetics and Metabolism London Health Sciences Centre London ON Canada.
出版信息
Clin Case Rep. 2021 Sep 7;9(9):e04758. doi: 10.1002/ccr3.4758. eCollection 2021 Sep.
Abstract
This report suggests that self-resolving oligohydramnios is an early sign of malfunctioning kidney in individuals with renal coloboma syndrome (RCS) and demonstrates how a genetic diagnosis can impact patient and fetal management as it outlines two generations of RCS.
摘要
本报告表明，自限性羊水过少是肾裂综合征（RCS）患者肾脏功能异常的早期迹象，并通过概述两代RCS患者展示了基因诊断如何影响患者及胎儿的管理。
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