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Biomédica

versão impressa ISSN 0120-4157
versão On-line ISSN 2590-7379

Resumo

MONTOYA, Jorge Hernán  e  MORALES, Olga Lucía. Four cases of Jarcho-Levin’s syndrome in the province of Antioquia, Colombia. Biomédica [online]. 2009, vol.29, n.1, pp.25-32. ISSN 0120-4157.

Jarcho-Levin’s syndrome is a skeletal dysplasia with changes in the morphogenesis and costal vertebrae segmentation. It is manifested by hemivertebrae, fused vertebral bodies, absent vertebrae or fused ribs. This entity has also been called spondylo-costal or spondylo-thoracic dysplasia-dysostosis. This paper presents four cases evaluated at the Hospital University San Vicente de Paúl, Medellín, Colombia. Three had family origins in southwestern Antioquia and one in Medellin, indicating the possibility of a predisposing genetic allele with elevated frequency in this population. The clinical and radiological manifestations were described, a well as the most notable complications, such as restrictive lung disease with permanent oxygen requirement (all 4 patients) and portal hypertension etiology (1 patient).  The latter has not been reported previously as a manifestation of this syndrome.

Palavras-chave : inheritance patterns; gene frequency; congenital abnormalities; spine; ribs; hypertension; portal.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )

 

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