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Interruptions in the delivery of cholesterol include Smith-Lemli-Opitz syndrome and abetalipoproteinemia.
A deficiency is associated with Smith-Lemli-Opitz syndrome.
Another differential diagnosis can be Smith-Lemli-Opitz syndrome, also known as G syndrome.
Smith also co-discovered and lent his name to such conditions as Smith-Lemli-Opitz syndrome, Marshall-Smith syndrome and others.
Another lead that researchers have found in their quest for a genetic basis for Dubowitz Syndrome is in investigating Smith-Lemli-Opitz syndrome (SLOS).
Smith-Lemli-Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an autosomal recessive metabolic and developmental congenital disorder that causes the inability to correctly produce or synthesize cholesterol due to a low occurrence of 7-DHC reductase, an enzyme involved in cholesterol synthesis.
In addition to Down syndrome, the triple and quadruple tests screen for fetal trisomy 18 also known as Edward's syndrome, open neural tube defects, and may also detect an increased risk of Turner syndrome, triploidy, trisomy 16 mosaicism, fetal death, Smith-Lemli-Opitz syndrome, and steroid sulfatase deficiency.
Słownik medyczny