Article
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.
The Journal of pediatrics - 1 Jul 1995
Tint G S, Salen G, Batta A K, Shefer S, Irons M, Elias E R, Abuelo D N, Johnson V P, Lambert M, Lutz R
Abstract excerpt
OBJECTIVES: To determine whether type I and the more severe type II variant of Smith-Lemli-Opitz syndrome have the same metabolic defect and to learn which plasma sterol measurements best predict survival. METHODS: Plasma sterols were measured in 33 individuals (24 type I, 9 type II) with a clinical diagnosis of the syndrome. RESULTS: Cholesterol levels were abnormally low (61 +/- 34 mg/dl) in type I subjects,...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Child
- Child, Preschool
- Cholesterol
- Female
- Humans
- Infant
- Infant, Newborn
- Lipid Metabolism, Inborn Errors