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CdLS Spectrum Clinical Criteria (scoring)

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

There are criteria that will help recognizing if somebody could have CdLS. The International CdLS Consensus Group has agreed on criteria for the CdLS spectrum which are based on so-called cardinal and suggestive features.


Zalecenie(a)

CdLS Spectrum Clinical Criteria (scoring)

R1
Spektrum CdLS obejmuje szereg fenotypów składających się z klasycznego (lub typowego) CdLS i nieklasycznego CdLS, które charakteryzują się kombinacją cech (zobacz Box 1).
R2
Międzynarodowa Grupa ds. Konsensusu CdLS proponuje kryteria konsensusu oparte na obecności kombinacji objawów i cech (zobacz Box 1). Diagnoza klasycznego CdLS może być potwierdzona, jeśli osiągnięty zostanie wynik 11 punktów, niezależnie od obecności wariantu w genie, o którym wiadomo, że powoduje CdLS.

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