Table 4b.

Chromosomal Abnormalities Associated with IUGR and Poor Postnatal Growth to Consider in the Differential Diagnosis of Silver-Russell Syndrome

Chromosomal AbnormalityCharacteristic Features of Disorder
Overlapping w/SRS (in addition to IUGR & poor postnatal growth)Distinguishing from SRS
Diploid/triploid mixoploidy 1Limb asymmetry
  • Global DD
  • Microcephaly
Maternal UPD of chr 6
  • Triangular face
  • Frontal bossing
  • Clinodactyly
  • No asymmetry
  • No relative macrocephaly
  • No postnatal growth restriction; catch-up growth seen in many persons
Temple syndrome (maternal UPD of chr 14), paternal chr 14 deletion, or LOM at 14q32) (OMIM 616222)Many features overlap w/SRS.
  • Challenging to distinguish on clinical basis
  • Later in life, affected persons are overweight w/truncal obesity.
Maternal UPD of chr 20 2 or deletion of chr 20q13.2 (loss of paternally expressed GNAS)
  • Triangular face
  • Feeding difficulties
  • Clinodactyly
  • Cryptorchidism
  • Hypotonia
  • No relative macrocephaly
  • No asymmetry

chr = chromosome; DD = developmental delay; IUGR = intrauterine growth restriction; LOM = loss of methylation; UPD = uniparental disomy

1.
2.

From: Silver-Russell Syndrome

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