Urorectal Septum Malformation Sequence Presenting with Complete Penoscrotal Transposition, Urethral Atresia, and Imperforate Anus: A Case Report

Urorectal septum malformation sequence (URSMS) is a rare congenital anomaly featuring severe genitourinary and gastrointestinal malformations. We report a neonate with complete URSMS, characterized by complete penoscrotal transposition, a hypoplastic phallus without urethral opening, and an imperforate anus. Laboratory evaluation revealed an elevated serum creatinine of 2.47 mg/dL. Intraoperatively, the rectum and urethra formed a common channel at the phallic base. Anoplasty and urethrostomy were performed. Postoperatively, the infant was anuric and ultrasound confirmed bilateral multicystic dysplastic kidney. Recognition of URSMS is important for accurate diagnosis, surgical planning, and counselling regarding prognosis.