Specific to SLOS
, patients experience delayed development and malformations in certain organs like the brain, heart and liver.
The genetic causes of SLOS in Europe have been summarised  and compared with those in the USA.
Information about SLOS is limited in South Africa (SA).
Types: SLOS type I--milder form with residual DHCR7 enzyme activity and
SLOS type II--severe form with no enzyme activity and high mortality rate in neonates (1).
SLOS is an autosomal recessive disorder caused by a metabolic error in the cholesterol pathway.
In a study of 15 patients with confirmed SLOS followed in the clinic, the researchers found that three males had the classic autism phenotype but didn't have the classic physical features of SLOS.
Each day SLOS will offer different free entertainment, with the medals presentations at night followed by fireworks at 10 p.
Still, SLOS is a secure area with a fence around the whole complex, guards and magnetometers at every entrance -- all a potential death knell for business.
Here we demonstrate the use of this method for the accurate prenatal diagnosis of SLOS through amniotic fluid analysis.
Our goal was simply to measure the ratio of DHC to cholesterol in control samples and those from SLOS-affected pregnancies, and to evaluate if this ratio could be used to allow the accurate prenatal diagnosis of SLOS.
The patient population consisted of the following: SLOS
(OMIM 270400), 3 cases; CTX (OMIM 213700), 3 cases; sitosterolemia (OMIM 210250),1 case; and Refsum disease (OMIM 266500), 1 case.