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.
Becker
Kristin
K
North Wales Clinical Genetics Service Department of Gynaecology, Glan Clwyd Hospital, Rhyl Institute of Medical Genetics, University Hospital of Wales, Cardiff Department of Radiology, Great Ormond Street Hospital for Sick Children, London, UK.
Howard
Karol
K
Klazinga
Derek
D
Hall
Christine M
CM
D000015:Abnormalities, Multiple; D000328:Adult; D005260:Female; D006343:Heart Septal Defects / Q000150:complications*; D006801:Humans; D007866:Leg / Q000473:pathology*; D010388:Pelvis / Q000473:pathology*; D013577:Syndrome