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Criterios clínicos del espectro SCdL (puntuación)

  
For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with síndrome de Cornelia de Lange (CdLS). 

El Grupo Internacional de Consenso en SCdL ha acordado unos criterios para el espectro SCdL que se basa en los hallazgos principales y sugerentes (como se muestra en el Cuadro 1, página 5).


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Criterios clínicos del espectro SCdL (puntuación)

R1
El espectro SCdL abarca un rango de fenotipos que incluyen el SCdL clásico (típico) y SCdL no clásico (atípico), que se caracterizan por una combinación de hallazgos físicos (ver Cuadro 1).
R2
El Grupo Internacional de Consenso en SCdL propone criterios de consenso basados en la presencia de una combinación de signos y síntomas (ver cuadro 1). El diagnóstico del SCdL clásico puede confirmarse si se alcanza una puntuación de 11, con independencia de la presencia de una mutación en un gen asociado al SCdL.

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