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Previous Volume 330:1685-1687 June 9, 1994 Number 23 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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To the Editor: Tint et al. (Jan. 13 issue)¹ reported a biochemical defect in cholesterol biosynthesis that gives rise to a well-recognized dysmorphic syndrome, the Smith-Lemli-Opitz syndrome. Plasma from affected children contains a high concentration of the cholesterol precursor 7-dehydrocholesterol and a low level of cholesterol. The risk of recurrence of this autosomal recessive condition in a subsequent child is 1 in 4, and to date, prenatal ultrasound scanning has been of limited use².

We have used biochemical testing to perform a successful prenatal diagnosis. The first child of the couple requesting the prenatal diagnosis had the Smith-Lemli-Opitz syndrome, . . . [Full Text of this Article]

References

Related Letters:

Medical Schools and Home Care
Steel R. K., Musliner M., Boling P. A.
Extract | Full Text  
N Engl J Med 1994; 331:1098-1099, Oct 20, 1994. Correspondence

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