SMITH-LEMLI-OPITZ-SYNDROME - 30-YEAR FOLLOW-UP OF S OF RSH SYNDROME

We have reassessed patient ''S,'' one of the first 3 individuals recog nized to have Smith-Lemli-Opitz (or RSH) syndrome, at age 34 years, an d we describe his physical, developmental, and behavioral manifestatio ns. This reassessment provides formal evidence that this individual ha s the cholesterol. biosynthetic defect which is thought to be the caus e of Smith-Lemli-Opitz syndrome. Dietary manipulation appears to have had a beneficial effect on the patient's behavior and suggests that ev en in adults with this condition, dietary cholesterol supplementation may be indicated. (C) 1997 Wiley-Liss, Inc.