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Familial Jarcho-Levin syndrome |
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| Authors: | M. G. Romeo G. Distefano D. Dt Bella A. Mangiagli L. Caltabiano S. Roccaro F. Mollica |
| Affiliation: | Department of Pediatrics, University of Catania, Italy. |
| Abstract: | Jarcho-Levin syndrome is a variety of autosomal recessive spondylocostal dysostosis characterized by severe deformity of the thoracic cage, leading to respiratory failure and early death. There are often associated dysmorphic features. The disease is more frequent in Puerto Ricans and rare in Europe. A Sicilian family with four affected individuals in two interrelated sibships is reported. |
| Keywords: | autosomal recessive inheritance crab-like thorax Jarcho-Levin syndrome spondylocostal dysostosis |