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Silver–Russell syndrome
  1. Emma L Wakeling
  1. Correspondence to Dr E Wakeling, North West Thames Regional Genetic Service (Kennedy-Galton Centre), Level 8V, North West London Hospitals NHS Trust, Watford Rd, Harrow, Middlesex, HA1 3UJ, UK; e.wakeling{at}nhs.net

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.

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Commissioned; externally peer reviewed.

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