Unveiling a Unique Posterior Cloaca Variant: Expanding the Spectrum

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.

posterior cloaca - urorectal malformation sequence - aphallia

Written informed consent for the publication of this case report and for the accompanying images was obtained from the parents.

*These authors should be considered co–first authors.

© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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