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.
