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• W1968736747 abstract "Silver–Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face, asymmetry and feeding difficulties. As many of these features are non-specific, clinical diagnosis of SRS remains difficult. Hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 and maternal uniparental disomy (mUPD) for chromosome 7 are found in up to 60% and around 5–10% of patients with SRS, respectively. Patients with ICR1 hypomethylation are more likely to have classical features of SRS, including asymmetry; patients with mUPD7 are more likely to have learning difficulties, particularly speech problems, although these are usually mild. As features vary widely in severity, clinicians should have a low threshold for genetic investigation of patients with features suggestive of SRS." @default.
• W1968736747 created "2016-06-24" @default.
• W1968736747 creator A5082973474 @default.
• W1968736747 date "2011-02-24" @default.
• W1968736747 modified "2023-09-23" @default.
• W1968736747 title "Silver-Russell syndrome" @default.
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• W1968736747 doi "https://doi.org/10.1136/adc.2010.190165" @default.
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