Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.

  title={Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.},
  author={Lisa E. Kratz and Richard I Kelley},
  journal={American journal of medical genetics},
  volume={82 5},
The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is a relatively common, autosomal recessive malformation syndrome comprising distinctive facial, limb and genital anomalies, and mental retardation. Most patients with a clinical diagnosis of RSH/SLOS have a defect of cholesterol biosynthesis at the level of 3beta-hydroxysteroid-delta7-reductase, resulting in a decreased level of cholesterol and an increased level of 7-dehydrocholesterol (7DHC) in body fluids and tissues. We report on our experience… CONTINUE READING


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