Unusual case of Smith-Lemli-Opitz syndrome "type II".

Abstract excerpt

We describe a fetus with abnormalities suggestive, but not typical, of severe Smith-Lemli-Opitz syndrome (SLO). Biochemical studies demonstrated that there was a defect of cholesterol biosynthesis similar to that recently discovered in children with SLO. The findings in this fetus extend even fur...

Topics

• Abnormalities, Multiple
• Cholesterol
• Humans
• Lipid Metabolism, Inborn Errors
• Male
• Phenotype
• Syndrome