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

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.

Minor dysmorphic features in a patient with papillorenal syndrome – A Case Report

Papillorenal syndrome, also known as renal coloboma syndrome, is characterised by congenital optic disc anomalies and renal abnormality. The syndrome causes mutations in the PAX2 gene, which plays a critical role in embryogenesis. Other related anomalies are less commonly observed. To our knowledge, ours is the first case reported in the literature in which Papillorenal syndrome accompanied various dysmorphic features. Keywords: Renal coloboma syndrome; PAX2-related disorder; coloboma of optic nerve, multicystic dysplastic kidney; eye abnormalities Continuous...