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Jarcho Levin Syndrome Associated With Aortic Coarctation | 23283

Médecine générale : libre accès

ISSN - 2327-5146

Abstrait

Jarcho Levin Syndrome Associated With Aortic Coarctation

AEs Seddiki, A Babakhouya, S Messaoudi, M Rkain, R Amrani and N Benajiba

Jarcho-Levin syndrome is a rare congenital disorder, characterized by a short trunk and vertebral and rib malformations. At birth, the diagnosis is suspected in a neck and a short trunk and thorax, a protruding abdomen, rib anomalies and vertebral defects as hemivertebrae, often associated with scoliosis. There are two different phenotypes: spondylocostal dysplasia and spondylothoracique dysplasia. Several defects are associated with bone malformations in this syndrome including neural tube defects (Spina Bifida found in 25% of patients), heart defects are rarely reported in the literature. We report a case of Jarcho-Levin syndrome in 40 days old infant associated with a heart disease.

Avertissement: Ce résumé a été traduit à l'aide d'outils d'intelligence artificielle et n'a pas encore été examiné ni vérifié