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Familial Jarcho‐Levin syndrome
Author(s) -
Romeo M. G.,
Distefano G.,
Bella D. Dt,
Mangiagli A.,
Caltabiano L.,
Roccaro S.,
Mollica F.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03023.x
Subject(s) - medicine , genetics , biology
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.