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.

ABSTRACT

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.