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dc.contributor.authorKhalil, H.
dc.contributor.authorEdwards, H.
dc.contributor.authorPreston, J.
dc.date.accessioned2008-08-13T07:07:50Z
dc.date.available2008-08-13T07:07:50Z
dc.date.issued2008-05
dc.identifier.citationKhalil , H , Edwards , H & Preston , J 2008 , ' Russell-Silver syndrome presenting as early asymmetric IUGR ' , Ultrasound , vol. 16 , no. 2 , pp. 87-90 . https://doi.org/10.1179/174313408X294563
dc.identifier.issn1742-271X
dc.identifier.otherPURE: 118451
dc.identifier.otherPURE UUID: 7af04188-d48a-40ce-bd6a-4f98827083df
dc.identifier.otherdspace: 2299/2302
dc.identifier.otherScopus: 47749099366
dc.identifier.urihttp://hdl.handle.net/2299/2302
dc.descriptionOriginal article can be found at: http://www.maney.co.uk/search?fwaction=show&fwid=440 Copyright British Medical Ultrasound Society DOI: 10.1179/174313408X294563
dc.description.abstractWe report a case of severe IUGR (intrauterine growth restriction) which was diagnosed as Russell-Silver syndrome (RSS) postnatally. RSS (also known as Silver-Russell syndrome) is one of more than 300 recognised forms of genetic disorder that leads to short stature. UPD7 (uniparental disomy for chromosome 7) i.e., inheriting two copies of chromosome 7 from the mother, and a change in methylation pattern (biochemical silencing of gene expression) of chromosome 11 are the most frequently associated chromosomal defects. A wide spectrum of appearances and symptoms are associated with the condition. Most characteristics are not easily identifiable with prenatal diagnostic ultrasound. The symptom most likely to be detected sonographically is IUGR. This case seeks to raise awareness of RSS, and encourages clinicians to consider uncommon genetic disorders like RSS as a possible cause of early asymmetric IUGR.en
dc.language.isoeng
dc.relation.ispartofUltrasound
dc.rightsOpen
dc.subjectUltrasound
dc.subjectVSD
dc.subjectDysmorphia
dc.subjectShort stature
dc.titleRussell-Silver syndrome presenting as early asymmetric IUGRen
dc.contributor.institutionDepartment of Allied Health Professions and Midwifery
dc.contributor.institutionHealth & Human Sciences Research Institute
dc.description.statusPeer reviewed
dcterms.dateAccepted2008-05
rioxxterms.versionofrecordhttps://doi.org/10.1179/174313408X294563
rioxxterms.typeJournal Article/Review
herts.preservation.rarelyaccessedtrue
herts.rights.accesstypeOpen


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