Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities

Am J Med Genet. 1995 Apr 10;56(3):276-80. doi: 10.1002/ajmg.1320560308.


We have studied a girl with multiple congenital anomalies, growth and mental deficiency, characteristic facial anomalies, cataracts, cerebellar atrophy, and severe hypocholesterolemia. Death occurred at age 7 years. After excluding several syndromes, i.e., peroxisomal disorders, mevalonic acidaemia, and Marinesco-Sjögren syndrome, it is concluded that this girl had severe Smith-Lemli-Opitz Syndrome (SLOS) with exceptionally long survival. This diagnosis was confirmed through assay of 7-dehydrocholesterol in cultured fibroblasts.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / blood
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Cholesterol / metabolism*
  • Cholesterol, HDL / blood
  • Cholesterol, LDL / blood
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors / blood
  • Lipid Metabolism, Inborn Errors / genetics
  • Lipid Metabolism, Inborn Errors / pathology*
  • Liver / pathology
  • Phenotype
  • Syndrome


  • Cholesterol, HDL
  • Cholesterol, LDL
  • Cholesterol