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Misvorming door draaiing in de darm

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

Over een klein aantal individuen met CdLS is gerapporteerd dat zij een plotse misvorming door rotatie van de darm (intestinale malrotatie) hadden. 

Malrotatie betekent dat de darmen (of ingewanden) gedraaid zijn, wat verstopping kan veroorzaken. Intestinale malrotatie kan plaatsvinden tijdens de zuigelingenperiode, de kindertijd of puberteit. 


Misvorming door draaiing in de darm

Presentation of any abdominal symptoms in an individual with CdLS, irrespective of age, should prompt consideration of intestinal malrotation.
Evaluation for the presence of intestinal malrotation needs to be discussed and decided together with the family, balancing the potential gain in health and burden for the individual with CdLS.


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