Disostosis Espondilocostal: el síndrome de Jarcho-Levin

Jorge Torres Flores, Milagros García Pérez, Cornelio Román Soria Sánchez

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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Referencias


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