# Persistent Urogenital Sinus Leading to Hydrometrocolpos in a Female Child With Features of McKusick-Kaufman Syndrome

## TL;DR

A rare case of a female child with overlapping syndromes including McKusick-Kaufman syndrome and persistent urogenital sinus is reported.

## Contribution

The paper presents a unique clinical case with multiple overlapping syndromes and rare urogenital anomalies.

## Key findings

- The child exhibits features of McKusick-Kaufman syndrome and persistent urogenital sinus.
- The case highlights the importance of antenatal diagnosis for complex syndromes.
- The patient has congenital heart disease, polydactyly, and bilateral hydroureteronephrosis.

## Abstract

Persistent urogenital sinus (PUGS) presents as a solitary abnormality or is in association with syndromes, such as congenital adrenal hyperplasia (CAH), VACTERL association (common abbreviation for vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), Bardet-Beidl syndrome, McKusick-Kaufman syndrome (MKS), and Townes-Brocks syndrome, to name a few. Those affected usually have overlapping phenotypic features of two or more syndromes. Because such children may grow up to be intellectually challenged with multiple other anomalies including gonadal hyperplasia, congenital heart defects, and sensorineural hearing loss, antenatal diagnosis becomes important. Moreover, those who survive into childhood may need a holistic approach to improve their quality of life. This is a rare case of an eight-year-old female child who is a postnatally diagnosed case of congenital heart disease, urogenital sinus with polydactyly, and bilateral hydroureteronephrosis at birth and who is now showing features of multiple overlapping syndromes.