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

Andrew Nguyen; Carla Campagnolo; Ghislain Hardy; Maha Saleh

doi:10.1002/ccr3.4758

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

Clin Case Rep. 2021 Sep 7;9(9):e04758. doi: 10.1002/ccr3.4758. eCollection 2021 Sep.

Authors

Andrew Nguyen¹, Carla Campagnolo², Ghislain Hardy^{1

3}, Maha Saleh^{1

2}

Affiliations

¹ Schulich School of Medicine and Dentistry University of Western Ontario London ON Canada.
² Department of Paediatrics Division of Genetics and Metabolism London Health Sciences Centre London ON Canada.
³ Department of Obstetrics and Gynecology London Health Sciences Centre London ON Canada.

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.

Keywords: PAX2; diagnosis; genetic testing; oligohydramnios; prenatal presentation; renal coloboma syndrome.

Publication types

Case Reports