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2010-04-08-11 Meckel Gruber syndrome © Cuillier

Meckel-Gruber syndrome

Fabrice Cuillier, MD.

Service de Gynécologie-Obstétrique, Hôpital Félix Guyon, Saint-Denis de La Réunion, France.

Case report

This is a case of a 30-year-old patient (G1P0) with no known obstetric risk factors and non-contributive personal or family history. The first trimester scan was not performed and the nuchal translucency was not measured.
The triple screen test was done with a risk of 1:355.
The first ultrasound scan was performed at 15 weeks of gestation in our antenatal unit.
We found the following findings: 

  • Occipital meningocele
  • Enlarged multicystic dysplastic kidneys
  • Polydactyly was not present 

The karyotype was normal 46 XX. Patient decided for the termination of the pregnancy based on the ultrasound findings. The autopsy was performed and confirmed our prenatal findings. The final diagnosis was Meckel-Gruber syndrome.

Images 1,2: Occipital meningocele diagnosed at 15 weeks.

Images 3,4: Transverse view of the fetal abdomen, note the enlarged dysplastic cystic kidneys.

Images 5,6: Both hands showing a normal count of fingers.

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