Diagnostic approaches

        For forældre, plejere, sundhedsplejersker og lærere opstår der ofte bekymringer og spørgsmål vedrørende pleje og velvære for personer med Cornelia de Lange syndrom. 

There are multiple approaches to get a diagnose. You can try to do it prior to birth, as early as possible. After birth you can get a clinical diagnose (by visual observation and by diagnoses of body defects). The definitive diagnose can be confirmed by molecular testing the genes for a mutation (since 2007).

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