Familial Jarcho-Levin syndrome.
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.
Romeo
M G
MG
Department of Pediatrics, University of Catania, Italy.
Distefano
G
G
Di Bella
D
D
Mangiagli
A
A
Caltabiano
L
L
Roccaro
S
S
Mollica
F
F
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002574:Cervical Vertebrae / Q000002:abnormalities*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004413:Dysostoses / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007738:Kyphosis / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D012272:Ribs / Q000002:abnormalities*; D013128:Spinal Osteophytosis / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D013904:Thoracic Vertebrae / Q000002:abnormalities*