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Silver-Russell syndrome.

Emma L Wakeling1

  • 1North 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

Archives of Disease in Childhood
|February 26, 2011
PubMed
Summary
This summary is machine-generated.

Silver-Russell syndrome (SRS) presents with growth issues and distinct facial features, making diagnosis challenging. Genetic testing for chromosome 11p15 hypomethylation or chromosome 7 mUPD is crucial for confirming SRS.

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Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Silver-Russell syndrome (SRS) is a rare growth disorder with complex clinical manifestations.
  • Key features include intrauterine growth restriction, postnatal growth failure, relative macrocephaly, and facial dysmorphia.
  • Diagnostic challenges arise due to the non-specific nature of many SRS features.

Purpose of the Study:

  • To outline the genetic underpinnings of Silver-Russell syndrome.
  • To correlate specific genetic findings with clinical presentations in SRS patients.
  • To emphasize the importance of genetic investigation in suspected SRS cases.

Main Methods:

  • Review of genetic mechanisms associated with SRS.
  • Analysis of clinical phenotypes in patients with identified genetic abnormalities.
  • Correlation of genetic findings (ICR1 hypomethylation, mUPD7) with clinical features.

Main Results:

  • Hypomethylation of imprinting control region 1 (ICR1) on chromosome 11p15 occurs in up to 60% of SRS patients.
  • Maternal uniparental disomy for chromosome 7 (mUPD7) is identified in 5-10% of SRS cases.
  • ICR1 hypomethylation is linked to classical SRS features like asymmetry, while mUPD7 is associated with learning and speech difficulties.

Conclusions:

  • Genetic testing is essential for diagnosing SRS due to overlapping clinical features.
  • Specific genetic causes, such as ICR1 hypomethylation and mUPD7, have distinct clinical associations.
  • A low threshold for genetic investigation is recommended for patients exhibiting suggestive SRS features.