Jarcho-Levin Syndrome: Two Consecutive Cases in the Same Family

  • patsouras grigorios Department of Obstetrics and Gynecology, “Tzaneio Hospital”, Athens, Greece
  • George Maroudias Department of Obstetrics and Gynecology, “Tzaneio Hospital”, Athens, Greece
  • Saloum Ioannis Third Department of Obstetrics and Gynecology, "Attikon Hospital", Medical School, National and Kapodistrian University of Athens, Athens, Greece
  • Patsouras Konstantinos Third Department of Obstetrics and Gynecology, "Attikon Hospital", Medical School, National and Kapodistrian University of Athens, Athens, Greece
Keywords:
Jarcho-Levin Syndrome, Spondylocostal Dysostosis (SCD), Growth Disorder, Genetic Testing

Abstract

Jarcho-Levin Syndrome was first defined in 1938 by Saul Jarcho and Paul Levin. In the medical literature Jarcho-Levin Syndrome has a variety of synonyms such as Spondylocostal dysplasia/Dysostosis, Spondylocostal Dysostosis (SCD), Spondylothoracic dysplasia/Dysostosis and costovertebral dysplasia. For years the SCD and a similar disorder, spondylothoracic dysplasia, were considered the same disorder and referred as Jarcho-Levin Syndrome. Today we know that these two disorders are different clinical entities with different causes and that the term Jarcho-Levin Syndrome should be reserved for individuals with Spondylocostal dysplasia. Affected individuals with SCD have various abnormalities in the development of the spine and ribs. Due to these abnormalities they are more prone to develop thoracic insufficiency syndrome which may eventually lead to early neonatal death. In the current case report we describe two consecutive cases with SCD in the same family. In the case of a strong clinical suspicion from the findings of the ultrasound scan we should proceed to a molecular genetic diagnosis of a mutation in DLL3, MESP2, LFNG and HES7 gene by sequencing the entire coding area of the fetal Deoxyribonucleic acid (DNA).

References

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3. Berndon WE, Lampl BS, Cornier AS. Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). Pediatr Radiol 2011; 41: 384-8.
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Published
2020-02-02
How to Cite
1.
grigorios patsouras, Maroudias G, Ioannis S, Konstantinos P. Jarcho-Levin Syndrome: Two Consecutive Cases in the Same Family. J Fam Reprod Health. 13(4):220-222.
Section
Case Reports