Imperforate anus (anal agenesis) with rectal and sigmoid atresias in a newborn

A male baby was born to a healthy mother after an uncomplicated 39-week pregnancy. He had finger and toe syndactyly, right hemidiaphragm eventration, and a high imperforate anus (anal agenesis). The kidneys and chromosomes were normal. A right transverse colostomy was done and 5 months later he underwent a posterior sagittal anorectoplasty (Pena procedure). An intermediate imperforate anus with no urethral fistula and a rectal atresia 2 cm proximal to the distal rectal pouch were found; the distal rectal pouch was resected and the standard Pena procedure completed. Dilatations were initiated 2 weeks postoperatively and continued until the colostomy was closed. Prior to closure of the colostomy, a distal colon loopogram demonstrated an obstruction in the sigmoid; constrast introduced via the rectum outlined the same obstruction separated by 2 cm. A low sigmoid atresia was then repaired. Three weeks later, a contrast loopogram showed a narrow but intact rectosigmoid anastomois, and the colostomy was closed. The anorectal dilatations were discontinued and he remains well at 7 years of age.