Síndrome de Marfan. Reporte de un caso
Abstract
El síndrome de Marfan es un proceso autosómico dominante con penetrancia completa, pero de expresividad variable. Se diagnostica basándose en los datos clínicos, algunos de los cuales depende del crecimiento. En este trabajo se presenta un caso de un niño de 8 años de edad, que se ingresó en el Hospital General Provincial Docente Roberto Rodríguez con la variedad clínica clásica del síndrome, que mostraba afectación esquelética, ocular y cardiovascular. Se describen las características clínicas del paciente y se compara con la literatura médica revisada. Se destaca la importancia del consejo genético.
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