Anorectal malformation with congenital absence of vagina: a case report and review of the literature

Congenital anorectal malformations are relatively common, and associated genitourinary malformations have been reported in up to 40% of patients. Uterovaginal malformations are also not rare in children. They are known to occur with increased frequency in children with anorectal malformations, but the diagnosis may still be difficult. We report herein one such case of anorectal malformation associated with congenital total absence of the vagina in which the uterovaginal malformation was not diagnosed until the operative repair of the anorectal malformation. The operative procedure was thereafter directed, along with the anorectoplasty, towards restoring a functional uterovaginal tract. Review of the literature revealed that such a diagnosis is unsuspected or delayed in more than half of affected patients. Furthermore, these patients present with many diagnostic and therapeutic problems. Our report highlights the need to be aware of this condition to allow for an earlier diagnosis and appropriate operative treatment.