Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients. Scalco et al. Genetics and Molecular Biology (this issue)

Opitz, John M.

doi:10.1590/s1415-47572006000300004

Cited by 1 publication

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“…The carrier state is sufficiently common (q.v. Nowaczyk et al, [146], Opitz et al, [147] up to almost 4%) in some populations that, by chance and without consanguinity, affected children can be born in different branches of the same family. It is now probable that other reports of phenotypically similar and more severe disorders, especially with fetal or perinatal death [148][149][150] are examples of SLOS.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Disorders of sterol biosynthesis

Furtado

Kelley

Opitz

2016

TRD

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As a major component of the cell membrane of most eukaryotic cells, cholesterol assumes crucial roles in myelination of the central and peripheral nervous systems; in the synthesis of bile acids, steroids, and vitamin D; in sterol signaling; and in embryonic development. Inborn errors of cholesterol biosynthesis comprise a heterogeneous group of disorders characterized by developmental delays, increased tissue levels of specific sterol intermediates, and complex malformations involving many organ systems. Here we present the basics of cholesterol biosynthesis and review the clinical phenotype, biochemistry, molecular pathogenesis, and management of the 8 known errors of sterol metabolism in humans: Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), X-linked dominant chondrodysplasia punctacta (Conradi-Hünermann syndrome; CDPX2), lathosterolosis, Smith-Lemli-Opitz syndrome, desmosterolosis, and methyl sterol oxidase (MSOM1/SC4MOL) deficiency.

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