Unveiling a Unique Posterior Cloaca Variant: Expanding the Spectrum

TL;DR

This paper describes a rare congenital malformation in newborn girls involving the posterior cloaca, highlighting its unique anatomy and outcomes.

Contribution

The paper introduces a novel posterior cloaca phenotype and discusses its clinical presentation and outcomes.

Findings

Three newborn girls presented with a novel posterior cloaca variant and ambiguous genitalia.

Two patients died due to renal failure, while the third had successful reconstruction.

Survivors may achieve good cosmetic outcomes, but functional outcomes remain unclear.

Abstract

A posterior cloacal variant is a congenital malformation where a urogenital sinus terminates anterior to a normally placed anus. These are rare malformations with highly variable anatomy. We report on three cases of a novel phenotype of posterior cloaca encountered at our institutions between October 2021 and November 2023. Three newborn girls were referred with ambiguous external genitalia and an anorectal malformation. In all cases, a midline sac, which is likely fused labioscrotal folds, replacing the clitoris was noted anterior to the perineal orifices. Two of the three patients demised as a result of renal failure. The third patient underwent reconstruction and is well. This posterior cloacal phenotype appears to be frequently associated with severe renal insufficiency. In survivors of the neonatal period, a good cosmetic outcome is achievable. Functional outcomes remain to be assessed.

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