Diagnosis of smith-lemli-opitz syndrome

Julie Mcgaughran, Dian Donnai, Peter Clayton, Kevin Mills, Udo Seedorf, Michael Walter, Gerd Assmann, G. Stephen Tint, Gerald Salen, Mira Irons

Research output: Contribution to journalLetterpeer-review

12 Scopus citations

Abstract

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,.

Original languageEnglish (US)
Pages (from-to)1685-1687
Number of pages3
JournalNew England Journal of Medicine
Volume330
Issue number23
DOIs
StatePublished - Jun 9 1994
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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