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Arch Dis Child. 2011 Dec;96(12):1156-61. doi: 10.1136/adc.2010.190165. Epub 2011 Feb 24.

Silver-Russell syndrome.

Author information

  • 1North 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@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.

PMID:
21349887
DOI:
10.1136/adc.2010.190165
[PubMed - indexed for MEDLINE]
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