Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome
- 13 January 1994
- journal article
- case report
- Published by Massachusetts Medical Society in The New England Journal of Medicine
- Vol. 330 (2), 107-113
- https://doi.org/10.1056/nejm199401133300205
Abstract
The Smith-Lemli-Opitz syndrome (frequency, 1:20,000 to 1:40,000) is defined by a constellation of severe birth defects affecting most organ systems. Abnormalities frequently include profound mental retardation, severe failure to thrive, and a high infant-mortality rate. The syndrome has heretofore been diagnosed only from its clinical presentation.Keywords
This publication has 24 references indexed in Scilit:
- Teratogenic effect of the cholesterol synthesis inhibitor AY 9944 on rat embryos in vitroTeratology, 1990
- Smith‐Lemli‐Opitz (RSH) syndrome bibliographyAmerican Journal of Medical Genetics, 1987
- Smith‐Lemli‐Opitz syndrome‐type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethalityAmerican Journal of Medical Genetics, 1987
- Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parentsSteroids, 1985
- Effects of BM 15.766 on Serum Lipids in RatsHormone and Metabolic Research, 1985
- Evidence for the early reduction of the 24,25 double bond in the conversion of lanosterol to cholesterol in cerebrotendinous xanthomatosisMetabolism, 1977
- The Metabolism of Cholestanol, Cholesterol, and Bile Acids in Cerebrotendinous XanthomatosisJCI Insight, 1973
- Sterol BiosynthesisAnnual Review of Biochemistry, 1967
- Biosynthesis of sterols, steroids, and terpenoids. Part I. Biogenesis of cholesterol and the fundamental steps in terpenoid biosynthesisQuarterly Reviews, Chemical Society, 1965
- A newly recognized syndromeof multiple congenital anomaliesThe Journal of Pediatrics, 1964