Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen

Am J Med Genet. 1997 Jan 31;68(3):257-9. doi: 10.1002/(sici)1096-8628(19970131)68:3<257::aid-ajmg2>;2-j.


The Museum Vrolik collection of human anatomy comprises 360 recently re-described specimens with congenital anomalies. The external findings in one of these specimens, originally described by Willem Vrolik (1801-1863) 130 years ago, were suggestive of Smith-Lemli-Opitz (SLO) syndrome. Cholesterol synthesis was analyzed in skin biopsies, obtained from the suspected SLO specimen and a control specimen. The cholesterol levels in the SLO specimen and in the control specimen were in the proportion of 1 to 45. This confirms the diagnosis in this specimen which, to our knowledge, represents the oldest known case of SLO syndrome.

Publication types

  • Historical Article

MeSH terms

  • Cadaver
  • History, 19th Century
  • Humans
  • Infant, Newborn
  • Male
  • Netherlands
  • Smith-Lemli-Opitz Syndrome / history*
  • Smith-Lemli-Opitz Syndrome / pathology