Síndrome de Joubert. Reporte de un caso
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Abstract
El síndrome de Joubert es una ciliopatía que se hereda en forma autosómica recesiva, estimaciones de la prevalencia oscilan entre 1/80.000 y 1/100.000 nacidos vivos. La enfermedad se presenta clínicamente con hipotonía de las extremidades, deterioro cognitivo, ataxia, taquipnea episódica, movimientos anormales del ojo, y agenesia del vermis cerebeloso. Esta última característica, junto mencionados, dan el diagnóstico para el síndrome de Joubert. Actualmente no se cuenta con un tratamiento curativo. Tiene un alto riesgo de recurrencia del 25% por lo cual se emplean métodos de detección prenatal en parejas que han tenido antecedentes de hijos con la enfermedad.
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