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Case report: a prenatal case of Jarcho–Levin syndrome diagnosed during the first trimester of pregnancy |
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| Authors: | Edouard Kauffmann Horatiu Roman Georges Barau Hervé Dumas Annick Laffitte Alain Fourmaintraux Marc Bintner Hanitra Randrianaivo |
| Institution: | 1. Pluridisciplinary Prenatal Diagnosis Center, Groupe Hospitalier Sud Réunion, Saint-Pierre Cedex, France;2. Department of Radiology, Groupe Hospitalier Sud Réunion, Saint-Pierre Cedex, France |
| Abstract: | The Jarcho–Levin syndrome is a specific form of spondylocostal/spondylothoracic dysostosis. There have been various classifications of this syndrome. We present the case of a severe prenatal Jarcho–Levin syndrome, diagnosed by ultrasound examination during the first trimester of pregnancy in a family with no previous medical history of an affected child. X-ray exploration, high-resolution spiral computed tomography and autopsy confirmed the diagnosis. Copyright © 2003 John Wiley & Sons, Ltd. |
| Keywords: | Jarcho–Levin syndrome spondylocostal dysostosis spondylothoracic dysostosis increased fetal nuchal translucency thickness spina bifida |