Deletion short arm 18 and Silver-Russell syndrome

Acta Paediatr Scand. 1978 Jan;67(1):101-3. doi: 10.1111/j.1651-2227.1978.tb16284.x.


A 14-year-old boy presented with physical signs of the Silver-Russell syndrome. He further had low-set, large protruding ears, ptosis, broad nasal base, thick protruding lips, pronounced caried, malaligment of teeth, micrognathia and mental retardation. Chromosome examination showed deletion of the short arms of chromosome No. 18. It is concluded that considering the previous findings of chromosome No. 18 aberrations in some patients with Silver-Russell syndrome such patients should always have chromosome examination made.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Bone Diseases, Developmental / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, 16-18*
  • Craniofacial Dysostosis / genetics*
  • Dwarfism / congenital
  • Dwarfism / genetics
  • Humans
  • Hypertrophy
  • Male
  • Puberty, Precocious / genetics
  • Syndrome