Resolving severe oligohydramnios as an early prenatal presentation of renal coloboma syndrome—A report of two generations

Clinical Case Reports

Carla Campagnolo¹  Ghislain Hardy²  Andrew Nguyen²  Maha Saleh² 

[1] Department of Paediatrics Division of Genetics and Metabolism London Health Sciences Centre London ON Canada;Schulich School of Medicine and Dentistry University of Western Ontario London ON Canada;

关键词: diagnosis;    genetic testing;    oligohydramnios;    PAX2;    prenatal presentation;    renal coloboma syndrome;   

DOI  :  10.1002/ccr3.4758

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown