Smith-Lemli-Opitz syndrome
β Scribed by Meinecke, Peter ;Blunck, Werner ;Rodewald, Alexander ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 332 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
It is important that clinical geneticists, where possible, categorise rare autosomal recessive disorders into discrete entities. This has become especially important for those who manage syndrome databases so that individual case reports can be correctly added to the existing literature or be entere
Smith-Lemli-Opitz (SLO or RSH) syndrome is characterized by multiple congenital anomalies, mental retardation, and defective growth; it results from an inherited defect in the biosynthesis of cholesterol. Patients have elevated plasma concentrations of 7-dehydrocholesterol, the immediate biosyntheti
We describe three unrelated patients with adrenal insufficiency and RSH or Smith-Lemli-Opitz syndrome (SLOS), a disorder due to deficient synthesis of cholesterol. These patients presented with hyponatremia, hyperkalemia, and decreased aldosterone-to-renin ratio, which is a sensitive measure of the