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2012-05-09-12 Meckel-Gruber syndrome ©Fabrice Cuillier    

Meckel-gruber syndrome at 12 weeks  

Department of Gynecology, Felix Guyon Hospital, 97400 Saint-Denis, Reunion’ Island, France. 

Case report:
This is a 26-year-old-woman, G3P2, with no known obstetric risk factors and with no relevant medical history. 
  • The first scan was performed at 12 weeks, in our antenatal unit.
Serial ultrasound scans revealed:  
  • Abnormal brain (Figure 1-3)
  • Occipital meningocele (Figure 4-6). 
  • 3D-ultrasound showed easily the occipital bone defect (Figure 7).  
  • Bilateral dysplasia kidney. Abnormal kidney was evident at 13 weeks (Figure 8, 9, 11, 12). 
  • Empty bladder (Figure 10).  
  • Polydactyly was not present, nevertheless.
  • Nuchal translucency was 1 mm (CRL: 54mm).
Meckel-Gruber syndrome was suspected. The patient decided to end pregnancy at 14 weeks. The karyotype was 46 XX. 
Post-mortem examination revealed occipital encephalocele. The kidney dystrophy and hepatic fibrosis suggested Meckel syndrome. 
The diagnosis was confirmed by our cytogeneticist.   

Figure 1-3: Abnormal brain

Figure 4-6: Occipital meningocele 

Figure 7:  Occipital bone defect  

Figure 8, 9, 10:  Bilateral dysplasia kidney 

Figure 11, 12: Abnormal kidneys were more apparent a week later

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