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        Russell-Silver syndrome presenting as early asymmetric IUGR

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        russell-silver.pdf (PDF, 230Kb)
        Author
        Khalil, H.
        Edwards, H.
        Preston, J.
        Attention
        2299/2302
        Abstract
        We 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.
        Publication date
        2008-05
        Published in
        Ultrasound
        Published version
        https://doi.org/10.1179/174313408X294563
        Other links
        http://hdl.handle.net/2299/2302
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