Activation of fatty acid oxidation in the Silver–Russell syndrome and the Brachmann–de Lange syndrome

Willems, P. J.; Schierbeek, H; Berger, Ruud; Smit, Gerrit

doi:10.1002/ajmg.1320300402

Cited by 9 publications

(3 citation statements)

References 29 publications

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“…Hemihypotrophy is not a symptom of the Floating-Harbor syndrome. Speech and mental development in cases with the Silver-Russell syndrome are either normal or slightly subnormal [5].…”

Section: Discussionmentioning

confidence: 99%

The Floating-Harbor syndrome

Majewski¹,

Lenard

1991

Eur J Pediatr

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We describe the seventh patient with the Floating-Harbor syndrome. Similar to previous cases in the literature this girl presented with proportionate intrauterine and postnatal growth retardation, normocephaly, triangular face with bulbous nose, long eyelashes, short upper lip, small vermilion border of upper lip, dorsally rotated ears, deep nuchal hair line, hirsutism, and clinodactyly of tittle fingers. She exhibited mental retardation and retarded speech development. Clinical symptoms and differential diagnosis of this rare syndrome are briefly discussed.

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“…Hemihypotrophy is not a symptom of the Floating-Harbor syndrome. Speech and mental development in cases with the Silver-Russell syndrome are either normal or slightly subnormal [5].…”

Section: Discussionmentioning

confidence: 99%

The Floating-Harbor syndrome

Majewski¹,

Lenard

1991

Eur J Pediatr

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“…Previous reports in the literature suggest a spectrum of metabolic abnormalities, particularly hypoglycaemia. Willems et al in 1988 reported an RSS patient with ketoaciduria and dicarboxylic aciduria who had mild hypoglycaemia and ketosis. The following cases support the proposition that the RSS phenotype may be associated with several different metabolic errors.…”

Section: Metabolic Dysfunction In Russell-silver Syndromementioning

confidence: 99%

Metabolic dysfunction in Russell‐Silver syndrome

Cazgan

Parano

Pavone

et al. 1994

J of Inher Metab Disea

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were extracted better, so also were urea and phosphate. We found that just one THF step provided a good compromise between satisfactory orotic and organic acids recovery and interference by metabolites. REFERENCESDi Donato S, Frerman FE, Rimoldi Met al (1986) Systemic carnitine deficiency due to lack of electron transfer flavoprotein : ubiquinone oxidoreductase. Neurology 36: 957-963. Harris ML, Oberholzer VG (1980) Conditions affecting the colorimetry of orotic acid and orotidine in urine. Clin Chem 24: 473. Stable isotope dilution analysis of orotic acid Jakobs C, Sweetman L, Nyhan WL et al (1984) ' ~ " ' " and uracil in amniotic fluid. Clin Chim Acta 143: 123-133.

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“…In addition, growth hormone (GH) insufficiency, previously documented in up to 60% of short children with intrauterine growth retardation (IUGR) as well as children with RSS 13 " 15 , could enhance the likelihood of the development of hypoglycaemia. Furthermore, some metabolic abnormalities during episodes of hypoglycaemia in children with RSS, such as ketoaciduria and dicarboxylic aciduria 16 , elevated serum long-chain fatty acids, increase in amino acids and lactate 6 , have been described. More recently, metabolic acidosis has been described as occurring more commonly in children with RSS 17 .…”

Section: Introductionmentioning

confidence: 98%