Caudal duplication syndrome with unilateral hypoplasia of the pelvis and lower limb and ventriculoseptal heart defect in a mother and features of VATER association in her child

We report the case of a 22-year-old female with caudal duplication syndrome, who in addition to intestinal duplication, imperforate anus, a dydelphic uterus and a single kidney also had a ventricular septal defect and hypoplasia of the left pelvis, leg, labia majora and left side of a duplicated vagina. She gave birth to a male baby with features of the VATER association including a tracheooesophageal fistula, a ventriculoseptal defect, an atrial septal defect and mild hypospadias. We suggest that caudal duplication syndrome and the VATER association may overlap and our two cases suggest possible autosomal dominant inheritance. Clin Dysmorphol 18:139-141 (C) 2009 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.