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

Abstract

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

• diagnosis
• genetic testing
• oligohydramnios
• PAX2
• prenatal presentation
• renal coloboma syndrome