Smith‐Lemli‐Opitz (RSH) syndrome bibliography

Opitz, John M.; Penchaszadeh, Víctor B.; Holt, Mary; Spano, LaVelle M.

doi:10.1002/ajmg.1320280324

Cited by 34 publications

(14 citation statements)

References 52 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The diagnosis of Hall-Pallister syndrome [24] was excluded because of the absence of the hamartoma of the brain and anal anomalies present in this condition. We cannot fully exclude the diagnosis of the lethal form of Smith-Lemli-Opitz syndrome [25], since there are many overlapping features, i.e., unlobulated lungs, ambiguous gentialia, etc. The phenotypic similarity of these two syndromes was pointed by Verloes et al [26].…”

Section: Discussionmentioning

confidence: 99%

The Many Faces of Oral-Facial-Digital Syndrome

Sukarova-Angelovska

Angelkova²,

Palcevska-Kocevska

et al. 2012

Balkan Journal of Medical Genetics

View full text Add to dashboard Cite

The oral-facial-digital (OFD) syndrome is a heterogeneous group of abnormalities that share anomalies of the oral cavity, face and digits of hands and feet. On the basis of other anomalies of brain, kidneys, limbs, eyes and other organs, at least 13 subgroups have been described. We here describe four unrelated patients with this syndrome, who have the typical facial, oral and digital anomalies and also anomalies of other organs and systems. Facial features, digital malformations, as well as the existence of additional malformations all of which can be classified into different subgroups. The report points out the difficulty in delineation of the subtypes of OFD syndrome because of the overlapping features between OFD subgroups.

show abstract

Section: Discussionmentioning

confidence: 99%

The Many Faces of Oral-Facial-Digital Syndrome

Sukarova-Angelovska

Angelkova²,

Palcevska-Kocevska

et al. 2012

Balkan Journal of Medical Genetics

View full text Add to dashboard Cite

show abstract

“…The relative standard deviation of the MALDI and SIMS standard curve slopes was 1.3-2.5%, and the correlation coefficients (ro) were 0.9980-0.9998. Because the relative system sensitivities for TAC and its metabolites are the same, the standard curve obtained for TAC can also be early, then SLO can result in microcephaly, mental and growth retardation, facial dimorphism, and syndactyly and/or polydactyly; 1 in 20,000 is afflicted with the disorder (178). It was recently shown that the SLO syndrome is a congenital defect that results in a significant reduction in blood cholesterol levels as a result of a defect in the enzyme (sterol A7-reductase) that biotransforms the precursor, 7-dehydrocholesterol (7-DHC), to cholesterol (179).…”

Section: B Identification and Quantification Of The In Vitro Hepaticmentioning

confidence: 99%

Application of secondary ion and matrix‐assisted laser desorption‐ionization time‐of‐flight mass spectrometry for the quantitative analysis of biological molecules

Muddiman

Gusev

Hercules

1995

Mass Spectrometry Reviews

View full text Add to dashboard Cite

This review primarily focuses on the current status of two solid‐state mass spectrometric (MS) techniques, namely, static secondary‐ion (SIMS) and matrix‐assisted laser desorption‐ionization (MALDI) time‐of‐fight (TOF) maSs spectrometry, as applied to the quantification of biological materials. Although a number of articles have appeared in the literature for both SIMS and MALDI quantitative analysis, neither field has been extensively researched nor currently used in general practice. However, several results are very exciting and offer advantages over conventional methods. The abilities and limitations of MALDI and SIMS for quantitative analysis of biological molecules will be discussed at the fundamental and applied level. Use of an internal standard approach, development of instrumental protocols, and sample preparation will be examined in detail. Various examples demonstrating the feasibility of quantitative analysis by MALDI and SIMS, including quantification of in vivo and in vitro metabolism of drugs in real biological matrices, will be reviewed. © 1996 John Wiley & Sons, Inc.

show abstract

“…The most prominent clinical manifestations include microcephaly, micrognathia, wide spread eyes, cataracts, flat nares, low set posteriorly rotated ears, and syndactyl. The prevalence of homozygotes is about 1 in 20,000 births (2) with an estimated carrier frequency of 1 to 2% (3).…”

Section: Introductionmentioning

confidence: 99%

Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats.

Xu¹,

Salen²,

Shefer³

et al. 1995

J. Clin. Invest.

View full text Add to dashboard Cite

The Smith-Lemli-Opitz syndrome is a recessive inherited disorder characterized by neurologic developmental defects and dysmorphic features in many organs. Recently, abnormal cholesterol biosynthesis with impaired conversion of 7-dehydrocholesterol to cholesterol has been discovered in homozygotes. To reproduce the biochemical abnormality, BM 15.766, a competitive inhibitor of 7-dehydrocholesterol-A7-reductase, the enzyme that catalyzes the conversion of 7-dehydrocholesterol into cholesterol was fed by gavage to rats. After 14 d, plasma cholesterol concentrations declined from 48 mg/dl to 16 mg/dl and 7-dehydro-cholesterol levels rose from trace to 17 mg/dl. Hepatocytes surrounding the central vein developed balloon necrosis. Stimulating cholesterol synthesis with cholestyramine followed by BM 15.766 produced an additional 40% decline (P < 0.05) in plasma cholesterol and 34% increase in 7-dehydrocholesterol levels compared to the inhibitor alone. Adding 2% cholesterol to the diet during the second week of BM 15.766 treatment increased plasma cholesterol threefold and decreased 7-dehydrocholesterol concentrations 55 %. Hepatic 3-hydroxy-3-methylglutaryl co-enzyme A (HMG-CoA) reductase activity increased 73% with a 3.9-fold rise in mRNA levels but cholesterol 7a-hydroxylase activity decreased slightly though mRNA levels increased 1.4 times with BM 15.766 treatment. These results demonstrate that BM 15.766 is a potent inhibitor of 7-dehydrocholesterol-A7-reductase. The model reproduces abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome and is useful to test different treatment strategies. Stimulating early steps of cholesterol synthesis worsens the biochemical abnormalities while feeding cholesterol inhibits abnormal synthesis, improves the biochemical abnormalities and prevents liver damage. (J. Clin. Invest. 1995. 95:76-81.)

show abstract

Smith‐Lemli‐Opitz (RSH) syndrome bibliography

Cited by 34 publications

References 52 publications

The Many Faces of Oral-Facial-Digital Syndrome

The Many Faces of Oral-Facial-Digital Syndrome

Application of secondary ion and matrix‐assisted laser desorption‐ionization time‐of‐flight mass spectrometry for the quantitative analysis of biological molecules

Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats.

Contact Info

Product

Resources

About