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 2018-04-08  Case of the week # 469  © Fabrice Cuillier  www.TheFetus.net

Answer to the case of the week # 469
April 26, 2018 - May 10, 2018

Dr Cuillier F.1, Dr Ho F.1, Pr Doray B.2, Alessandri J.L.3 

1. Department of Gynecology-Obstetrics, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France. 
2. Department of Genetics, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France. 
3. Department of Neonatology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France. 

 

Case report

This is a 26-year-old woman (G2P1) with unremarkable history and no consanguinity. Her first child was normal.

The first trimester screening was normal, the nuchal translucency was 1 mm (CRL = 62 mm) and the combined test result was 1/10000. 

Our second trimester ultrasound revealed the following findings:


  • Biometry of the long bones in 5th percentile,
  • Oligo-hydramnios with few movements of the fetus,
  • Important bilateral hydrocephaly (Image 1) with abnormal posterior fossa,
  • Normal face, cranium and orbits,
  • Normal kidneys and urinary bladder, 
  • Abnormal angulation of the fetal spine, with myelo-meningocele,

The parents opted for the termination of the pregnancy, but they accepted amniocentesis (normal karyotype, 46, XX).

Postmortem fetal analysis confirmed a myelo-meningocele with hydrocephaly.

Postmortem chest X-ray revealed an angulated spine, multiple hemivertebrae and fusion of the 7th, 8th, and 9th ribs on the left side.


The diagnosis of spondylo-costal dysostosis was presumed. The anomaly showed in the case represents a variety of Jarcho-Levin syndrome, or spondylo-costal dysplasia. The gene DLL3 (spondylo-costal dysplasia) and MSP2 (spondylo-thoracic dysplasia) were studied and the final diagnosis was confirmed. 



Images 1 and 2:
2D images show bilateral hydrocephaly.


                    


Images 3-6: 2D images show abnormal angulation of the fetal spine with myelo-meningocele, kyphoscoliosis, possible hemivertebrae.

        


Video 1, images 7 and 8: 2D images show abnormal angulation of the fetal spine with myelo-meningocele, kyphoscoliosis, possible hemivertebrae.



  


Images 9-14: 3D views of the fetal spine and thorax at 24 weeks confirmed important angulation of the spine, hemivertebrae, and fusion of the last ribs of the left and right side. 

    


 

Video 2: Anal cocard was present and normal.



Images 15-16: Postmortem fetal analysis confirmed a myelo-meningocele, an angulated spine, multiple hemivertebrae and fusion of the 7th, 8th, and 9th ribs on the left side.

 

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