We are using measurements of 7-dehydro-cholesterol to confirm our clinical diagnoses of Smith-Lemli-Opitz syndrome. We have been reassured that our clinical diagnoses have been confirmed by the laboratory test, and have used these studies for prenatal diagnosis.
We are concerned that we may be failing to test children who have abnormalities of cholesterol metabolism and relatively mild or non-specific clinical features. We would be interested in your experience. How wide is the spectrum of phenotypic abnormalities in children with abnormal 7DHC measurements? What criteria do you use in deciding which children to test? Should we be testing all babies with non-specific dysmorphic features and moderate developmental delay?
I would value your comments.
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