Perineal-mound defects

Abstract

Perineal-mound (PMD) and genital-fold defects cause anorectal malformations (ARM) in both sexes. They are common in females and usually present as a low anomaly (except rectovestibular fistula). They are rare in males and present as an intermediate anomaly. A common embryological explanation for these defects with varied presentation in males and females is discussed. These anomalies should be grouped separately in the classification of ARM. We present five male patients with PMD, three of whom had imperforate anus with rectobulbar fistula and perineal hypospadias and two who had imperforate anus with rectoperineal fistula.