Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management

  title={Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management},
  author={Forbes D Porter},
  journal={European Journal of Human Genetics},
Smith–Lemli–Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholesterol reductase (DHCR7). DHCR7 primarily catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. In SLOS, this results in decreased cholesterol and increased 7DHC levels, both during embryonic development and after birth. The malformations found in SLOS may result from decreased cholesterol, increased 7DHC or a combination of these two factors. This review discusses the clinical… CONTINUE READING