Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management
Copyright policy )Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management
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 aspects and diagnosis of SLOS, therapeutic interventions and the current understanding of pathophysiological processes involved in SLOS.
- National Institutes of Health United States
- United States Department of Health and Human Services United States
- National Institute of Child Health and Human Development United States
Oxidoreductases Acting on CH-CH Group Donors, Phenotype, Prenatal Diagnosis, Humans, Female, Genetic Counseling, Smith-Lemli-Opitz Syndrome
Oxidoreductases Acting on CH-CH Group Donors, Phenotype, Prenatal Diagnosis, Humans, Female, Genetic Counseling, Smith-Lemli-Opitz Syndrome
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