Silver-Russell Syndrome Workup

Updated: May 31, 2017
  • Author: Sunil Kumar Sinha, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Workup

Laboratory Studies

See the list below:

  • Karyotype and chromosomal microarrays can exclude other disorders in patients with suspected Silver-Russell syndrome.
  • If Silver-Russell syndrome is suspected, obtain patient and parental blood to evaluate for uniparental disomy of chromosome 7 and hypomethylation at chromosome 11p15 by polymerase chain reaction (PCR). This can be done only in specialized molecular diagnostic laboratories.
Next:

Imaging Studies

Obtain a hand radiograph to determine bone age. Plain film hand radiographic findings include the following:

  • Delayed bone age
  • Ivory epiphyses of distal phalanges
  • Small middle phalanx of the fifth finger in 80% of patients with Silver-Russell syndrome
  • Pseudoepiphyses at base of second metacarpal
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