[Four cases of Jarcho-Levin's syndrome in the province of Antioquia, Colombia].
Four cases of Jarcho-Levin's syndrome in the province of Antioquia, Colombia 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.
Montoya
Jorge Hernán
JH
Hospital Universitario San Vicente de Paúl, Medellín, Colombia. jhmv@elhospital.org.co
Morales
Olga Lucía
OL
D002675:Child, Preschool; D002908:Chronic Disease; D003105:Colombia; D003241:Consanguinity; D004413:Dysostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D006975:Hypertension, Portal / Q000209:etiology; D000860:Hypoxia / Q000209:etiology / Q000628:therapy; D021621:Imaging, Three-Dimensional; D007223:Infant; D008297:Male; D010102:Oxygen Inhalation Therapy; D010375:Pedigree; D012131:Respiratory Insufficiency / Q000209:etiology* / Q000628:therapy; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D014057:Tomography, X-Ray Computed