Russell-Silver syndrome presenting as early asymmetric IUGR

H. Khalil, H. Edwards, J. Preston

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    2 Citations (Scopus)
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    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.
    Original languageEnglish
    Pages (from-to)87-90
    JournalUltrasound
    Volume16
    Issue number2
    DOIs
    Publication statusPublished - May 2008

    Keywords

    • Ultrasound
    • VSD
    • Dysmorphia
    • Short stature

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