Smith-Lemli-Opitz syndrome: thirty-year follow-up of "S" of "RSH" syndrome

Am J Med Genet. 1997 Jan 31;68(3):260-2. doi: 10.1002/(sici)1096-8628(19970131)68:3<260::aid-ajmg3>;2-q.


We have reassessed patient "S," one of the first 3 individuals recognized to have Smith-Lemli-Opitz (or RSH) syndrome, at age 34 years, and we describe his physical, developmental, and behavioral manifestations. This reassessment provides formal evidence that this individual has the cholesterol biosynthetic defect which is thought to be the cause of Smith-Lemli-Opitz syndrome. Dietary manipulation appears to have had a beneficial effect on the patient's behavior and suggests that even in adults with this condition, dietary cholesterol supplementation may be indicated.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Cholesterol, Dietary / therapeutic use
  • Follow-Up Studies
  • Humans
  • Male
  • Smith-Lemli-Opitz Syndrome / diet therapy
  • Smith-Lemli-Opitz Syndrome / physiopathology*


  • Cholesterol, Dietary