Four cases of Jarcho-Levin's syndrome in the province of Antioquia, Colombia

作者：Hernan Montoya Jorge; Lucia Morales Olga

来源：Biomedica, 2009, 29(1): 25-32.

• inheritance patterns
• gene frequency
• congenital abnormalities
• spine
• ribs
• hypertension
• portal

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 Paul, Medellin, 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.

• 出版日期2009-3