Prenatal diagnosis of Smith-Lemli-Opitz syndrome

Am J Med Genet. 1995 Apr 10;56(3):269-71. doi: 10.1002/ajmg.1320560306.

Abstract

An abnormality in cholesterol synthesis was described recently in the Smith-Lemli-Opitz (SLO) syndrome. Here we describe how the application of this finding has enabled an accurate prenatal diagnosis. We also discuss the possible use of this test in detecting heterozygotes.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Amniocentesis
  • Amniotic Fluid / chemistry*
  • Cholesterol / analysis
  • Cholesterol / metabolism*
  • Dehydrocholesterols / analysis
  • Humans
  • Karyotyping
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Lipid Metabolism, Inborn Errors / genetics
  • Male
  • Phenotype
  • Syndrome

Substances

  • Dehydrocholesterols
  • Cholesterol
  • 7-dehydrocholesterol