Abstract
AbstractUrorectal septum malformation sequence (URSMS) is a rare congenital anomaly characterized by lack of perineal or anal opening, external genital defects, and various urogenital and colonic abnormalities. This condition results from deficient separation of the cloaca and the failure of the membrane to rupture. Here, we present a unique case of URSMS with prenatal diagnosis, which is extremely challenging to identify before birth. Prenatal ultrasonography revealed the presence of intraluminal enterolithiasis in the sigmoid colon, indicating high anal atresia and a vesicocolic fistula. The diagnosis was confirmed postnatally by clinical examination and ascending cystourethrogram. This case highlights the importance of prenatal screening in detecting rare congenital anomalies, and the role of ultrasonography in distinguishing enterolithiasis from other conditions. Moreover, it underscores the significance of precise fistula location determination for optimal neonatal management of anorectal malformations.
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