syndrome de Jarcho-levin: a propos de 6 cas

ABSTRACT

The authors report six cases of new borns carriers of Jarcho Levin syndrome. It is called also spondylo costal dysostosis. The diagnosis is made in all cases on short thorax and short neck with diminished ribs and multiple vertebral defects. Cranio facial and associated abnormalities are inconstant. The radiologic study confirm the diagnostic in all cases on the presence of thoracic and vertebral caracteristic abnormalities. The letal evolution in all cases associated with parent consanguinity, the reach of the two sex, the family cases and healthy parents plead forautosomal recessive inheritance severe form. The severean form associated with recurrent risk justifies the practice of genetic counseling and prenatal diagnosis