| Literature DB >> 2070546 |
M G Romeo1, G Distefano, D Di Bella, A Mangiagli, L Caltabiano, S Roccaro, F Mollica.
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.Entities:
Mesh:
Year: 1991 PMID: 2070546 DOI: 10.1111/j.1399-0004.1991.tb03023.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438