Resolving Severe Oligohydramnios as an Early Prenatal Presentation of Renal Coloboma Syndrome - a Report of Two Generations

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Abstract

Renal coloboma syndrome (RCS) is an autosomal dominant disorder associated with the PAX2 gene. With variable expressivity, renal and ocular abnormalities are reported in a majority of individuals affected. We highlight a mother and her newborn with RCS, both presenting prenatally, showing self-resolving severe oligohydramnios as an early prenatal finding.

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europepmc
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