Cloacal dysgenesis with imperforated anus

Cuillier F, MD Baroche G, MD Alessandri JL, MD

* Department of Gynecology, Félix Guyon'Hospital  ** Gynecologist, Jeanne D'Arc Clinic ***  Department of Neonatologiy, Félix Guyon'hospital ,  Réunion'Island, France.

This is a 26-year-old primigravida with a mono-amniotic pregnancy diagnosed at 12 weeks. At 16 weeks, a malformation on the pelvis of one of the twins was observed. There was also an single umbilical artery. The other twin was normal. An amniocentesis was performed (normal karyotype 46 XY). At 24 weeks, the same anomaly was reviewed. There was a physiological pyelocalyceal dilatation in both kidneys. No abdominal wall defect was observed. The spine was also normal. A hypospadia was seen with bilateral cryptorchidism.  The diagnosis of an urogenital complex anomaly was suspected by the pediatric surgeon, and in particularly a cloacal dysgenesis. At 32 weeks the pelvic cyst size had increased and became multilobulated. The kidneys seemed normal at 34 weeks.

At 36 weeks, a vaginal delivery occurred. The first baby died after 15 minutes due to pulmonary hypoplasia. The second baby was healthy. The postmortem radiography of the first baby was normal. Unfortunately the parents refused a anatomopathology. The baby presented different external anomalies as:

  • An anal imperforation
  • A hypospadias with bilateral cryptorchidim
  • The abdomen was prominent

This baby had certainly a cloacal dysgenesis with urogenital and digestive anomalies.

Transverse view at 24 weeks showing a pelvis cyst and normal kidney with physiological pyelocaliceal dilatation.


Left image: Parasagittal view at 24 weeks showing pelvis cyst and a normal spine Right image: 3D coronal view at 24 weeks of the pelvis


Transverse view at 32 weeks of the pelvis.


Note the stomach on the right image


Visualization of the sex of the twins at 32 weeks. We can see hypospadias of the first twins.


Transverse view of pelvis at 34 weeks


2D transverse view of kidney at 34 weeks


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