Anorectal anomalies associated with down's syndrome. a distinct entity

ABSTRACT

Cases of anorectal anomalies associated with Downs syndrome are distinct entity where there is no genitourinary or perineal fistula, this defect should not be considered as a trivial low anomaly. This study document our experience in a group of cases of anorectal anomalies and Downts syndrome, identifying incidence and type of the anomalies, other associated congenital anomalies and lessons learned from their management. 5 cases identified with ARM among a cohort of 34 cases of Downs syndrome all were without fistula, treated through perineal approach in the neonatal period without colostomy, cross table lateral film was not accurate method investigating these cases, constipation is a prominent feature in this group of patients, though histopathological examination was positive for ganglion cells. Cases of ARM and Downs syndrome are a unique group of patients for studying the genetic background of cases of ARM