Diagnostic and therapeutic problems in a case of prenatally detected fetal hydrocolpos

We report on a female fetus with prenatally suspected hydrometrocolpos. Postnatal evaluation additionally revealed ambiguous genitalia, anorectal atresia, vertebral segmentation anomalies and congenital intestinal aganglionosis. Colostomy was performed, but postoperative recovery was complicated by pulmonary hypertension and renal failure, resulting in death at day 18. Postmortem examination furthermore revealed a small ventricular septal defect, as well as rectovaginal and urethrovaginal fistulae, causing massive dilatation of the septated vagina (hydrocolpos). The possibility of an overlapping VACTERL and MURCS association is discussed.