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Case Reports
. 1991 Apr;39(4):253-9.
doi: 10.1111/j.1399-0004.1991.tb03023.x.

Familial Jarcho-Levin syndrome

M G Romeo  1 , G Distefano, D Di Bella, A Mangiagli, L Caltabiano, S Roccaro, F Mollica
Affiliations
Case Reports

Familial Jarcho-Levin syndrome

M G Romeo et al. Clin Genet. 1991 Apr.

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.

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