title: Silver-Russell syndrome.
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.
authors.affiliation: 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@nhs.net
authors.forename: Emma L
authors.initials: EL
authors.lastname: Wakeling
mesh_terms: D002658:Developmental Disabilities / Q000175:diagnosis; D019066:Facies; D005247:Feeding Behavior; D018392:Genomic Imprinting; D005838:Genotype; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D011379:Prognosis; D056730:Silver-Russell Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D024182:Uniparental Disomy