Silver-Russell syndrome.
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 imprin...
| Publicado en: | Archives of Disease in Childhood Vol. 96; no. 12; pp. 1156 - 1162 |
|---|---|
| Autor principal: | |
| Formato: | Journal Article |
| Publicado: |
BMJ Publishing Group
Dec2011
|
| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=104597446&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 104597446 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00039888 6PU jtl: Archives of Disease in Childhood issn: 00039888 maglogo: N pubinfo: dt: Dec2011 vid: 96 iid: 12 pid: 8280 pub: BMJ Publishing Group artinfo: ui: 104597446 2011361787 NLM21349887 104597446 ppf: 1156 ppct: 6 formats: tig: atl: Silver-Russell syndrome. aug: au: Wakeling EL affil: 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. sug: subj: Silver-Russell Syndrome Diagnosis Chromosome Disorders Developmental Disabilities Diagnosis Eating Behavior Facies Genes Genotype Growth Disorders Diagnosis Infant, Newborn Phenotype Prognosis Silver-Russell Syndrome Therapy Infant, Newborn: birth-1 month ab: 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. pubtype: Academic Journal doctype: Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
|---|