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Adrenal insufficiency in Smith-Lemli-Opitz syndrome
American Journal of Medical Genetics, 1999We describe three unrelated patients with adrenal insufficiency and RSH or Smith-Lemli-Opitz syndrome (SLOS), a disorder due to deficient synthesis of cholesterol. These patients presented with hyponatremia, hyperkalemia, and decreased aldosterone-to-renin ratio, which is a sensitive measure of the renin-aldosterone axis.
H C, Andersson +4 more
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2014
Smith–Lemli–Opitz syndrome (SLOS) is a multiple congenital malformation and intellectual disability syndrome with a broad clinical spectrum and phenotypes ranging from mild to severe. SLOS occurs in approximately 1 in 20,000–30,000 births in populations of northern and central European background.
Stefan Mundlos, Denise Horn
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Smith–Lemli–Opitz syndrome (SLOS) is a multiple congenital malformation and intellectual disability syndrome with a broad clinical spectrum and phenotypes ranging from mild to severe. SLOS occurs in approximately 1 in 20,000–30,000 births in populations of northern and central European background.
Stefan Mundlos, Denise Horn
openaire +2 more sources
2019
This chapter reviews the incidence, etiology, and biochemical basis of Smith–Lemli–Opitz syndrome, a metabolic disorder of cholesterol metabolism, characterized by multiple anomalies and dysmorphic features. Prenatal findings include a very low maternal serum estriol.
Robin D. Clark, Cynthia J. Curry
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This chapter reviews the incidence, etiology, and biochemical basis of Smith–Lemli–Opitz syndrome, a metabolic disorder of cholesterol metabolism, characterized by multiple anomalies and dysmorphic features. Prenatal findings include a very low maternal serum estriol.
Robin D. Clark, Cynthia J. Curry
openaire +1 more source
2017
Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is a multiple congenital anomaly disorder caused by an inborn error of cholesterol synthesis. Studies demonstrated that mutations in the gene for 3b-hydroxysterol-D7 reductase (DHCR7) result in low plasma cholesterol and corresponding increases in 7DHC. Distinctive facial features of include ptosis, small
openaire +1 more source
Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is a multiple congenital anomaly disorder caused by an inborn error of cholesterol synthesis. Studies demonstrated that mutations in the gene for 3b-hydroxysterol-D7 reductase (DHCR7) result in low plasma cholesterol and corresponding increases in 7DHC. Distinctive facial features of include ptosis, small
openaire +1 more source
THE SMITH–LEMLI–OPITZ SYNDROME
Medical Journal of Australia, 1971C G, Judge +2 more
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Nosology of Smith‐Lemli‐Opitz syndrome
American Journal of Medical Genetics, 1987Elizabeth Thompson +2 more
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SMITH‐LEMLI‐OPITZ SYNDROME IN AN ADULT
Journal of Intellectual Disability Research, 1972K, Fried, W I, Fraser
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Cataracts in the Smith-Lemli-Opitz Syndrome
American Journal of Ophthalmology, 1971E, Cotlier, P, Rice
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Journal of the American Academy of Child & Adolescent Psychiatry, 2001
Andrés Martin +5 more
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Andrés Martin +5 more
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