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Colegio de Medicos y Cirujanos República de Costa Rica

2015, Número 616

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Rev Med Cos Cen 2015; 72 (616)


Disostosis espondilocostal: el síndrome de Jarcho-Levin

Torres FJ, García PM, Soria SCR

Idioma: Español
Referencias bibliográficas: 31
Paginas: 653-658
Archivo PDF: 261.17 Kb.


RESUMEN

La disostosis espondilocostal es una alteración genética caracterizada por defectos de la segmentación vertebral y costillas mal alineadas. Hasta el momento se han identificado cinco genes causantes de disostosis espondilocostal, los cuales están relacionados con la vía de señalización NOTCH. Frecuentemente se emplean diversos nombres para indicar esta alteración genética. El diagnóstico se realiza mediante la exploración física e imágenes radiográficas de la columna y las costillas. El 50% de los afectados fallece en el primer año de vida, mientras que el resto, requerirá vigilancia ante futuras complicaciones respiratorias.


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