Resumo

NP DE HERREROS, María Beatriz; FRANCO, Rubén  e  ATOBE, Oscar. Jarcho-Levin Syndrome (Spondylocostal Dysostosis): A Report of Two Clinical Cases. Pediatr. (Asunción) [online]. 2013, vol.40, n.2, pp.161-166. ISSN 1683-9803.

Introduction: Jarcho- Levin syndrome includes a series of clinical phenotypes characterized by dwarfism, short trunk and multiple vertebral segmentation defects and anomalies of the ribs. There are two phenotypes with different clinical and radiological characteristics, different mode of heredity and different prognosis; the spondylothoracic dysostosis and the spondylocostal dysostosis. The first one shows multiple anomalies of vertebral bodies and ribs and a short thorax  in a“fan like” pattern, the second one shows the same anomalies, but not in a fan pattern and it is usually milder. Cases report: We report two cases of spondylocostal dysostosis. The first case is a girl of 8 days of age with multiple anomalies of vertebral bodies and ribs and no other defects. The second case a girl of 33 days of age with multiple anomalies of vertebral bodies and ribs without any other malformations. The latter case had prenatal diagnosis in the second trimester of the pregnancy. There was no family history in any of the two cases, and they don´t have respiratory distress. Both girls are evolving very well. Conclusion: The spondylocostal dysostosis is a rare genetic autosomal recessive syndrome. Early and accurate diagnosis is very important for the good evolution of the patient and allows good and precise genetic counseling.

Palavras-chave : Spondylocostal dysostosis; spondylothoracic dysostosis; Jarcho Levin; vertebral anomalies; rib anomalies.

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