Four cases of Jarcho-Levin’s syndrome in the province of Antioquia, Colombia
Keywords:
inheritance patterns, gene frequency, congenital abnormalities, spine, ribs, hypertension, portal
Abstract
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.
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References
1. Jarcho S, Levin PM. Hereditary malformation of the vertebral bodies. Bull Johns Hopkins Hosp. 1938;68:216-26.
2. Kulkarni ML, Navaz SR, Vani HN, Manjunath KS, Matani D. Jarcho-Levin syndrome. Indian J Pediatr. 2006;73:245-7.
3. Herrera MR, Beltran M. P44.14: Jarcho-Levin syndrome: second and first trimester ultrasound features. Ultrasound Obstet Gynecol. 2007;30:621-2.
4. Wong G, Levine D. Jarcho-Levin syndrome: two consecutive pregnancies in a Puerto Rican couple. Ultrasound Obstet Gynecol. 1998;12:70-3.
5. Shimizu K, Arai H, Sakamoto T, Sunamori M, Suzuki A. Jarcho-Levin syndrome associated with atrial septal defect and partial anomalous pulmonary venous return: a case report. J Card Surg. 1997;12:198-200.
6. Hatakeyama K, Fuse S, Tomita H, Chiba S. Jarcho-levin syndrome associated with a complex congenital heart anomaly. Pediatr Cardiol. 2003;24:86-8.
7. Hull AD, James G, Pretorius DH. Detection of Jarcho-Levin syndrome at 12 weeks’ gestation by nuchal translucency screening and three-dimensional ultrasound. Prenat Diagn. 2001;21:390-4.
8. Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, et al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet. 2000;24:438-41.
9. Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, et al. Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet. 2004;74:1249-54.
10. Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, et al. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet. 2008;82:1334-41.
11. Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Fatkin D, et al. Mutation of the Lunatic Fringe gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet. 2006;78:28-37.
12. Eliyahu S, Weiner E, Lahav D, Shalev E. Early sonographic diagnosis of Jarcho-Levin syndrome: a prospective screening program in one family. Ultrasound Obstet Gynecol. 1997;9:314-8.
13. Kauffmann E, Roman H, Barau G, Dumas H, Laffitte A, Fourmaintraux A, et al. Case report: a prenatal case of Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy. Prenat Diagn. 2003.23:163-5.
14. Onay OS, Kinik ST, Otgün Y, Arda IS, Varan B. Jarcho-Levin syndrome presenting with diaphragmatic hernia. Eur J Pediatr Surg. 2008;18:272-4.
15. Hurst JA, Firth HV, Smithson S. Skeletal dysplasias. Semin Fetal Neonatal Med. 2005;10:233-41.
16. Bannykh SI, Emery SC, Gerber JK, Jones KL, Benirschke K, Masliah E. Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: Report of two Caucasian siblings and literature review. Am J Med Genet. 2003;120:241-6.
17. DANE. Resultados censo general 2005. Población censada después de compensada por omisiones de cobertura geográfica y contingencia de transferencia, Andes (Antioquia). (Fecha de consulta: 1 de junio de 2008). Disponible en: http://www.dane.gov.co/files/censo2005/regiones/antioquia/andes.pdf.
18. Bravo ML, Valenzuela CY, Arcos-Burgos OM. Polymorphisms and phyletic relationships of the Paisa community from Antioquia (Colombia). Gene Geogr. 1996;10:11-7.
How to Cite
1.
Montoya JH, Morales OL. Four cases of Jarcho-Levin’s syndrome in the province of Antioquia, Colombia. Biomed. [Internet]. 2009 Mar. 1 [cited 2026 Jan. 13];29(1):25-32. Available from: https://revistabiomedicaorg.biteca.online/index.php/biomedica/article/view/38
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