Report of a case and further delineation of the SHORT syndrome

Am J Med Genet. 1985 Oct;22(2):311-4. doi: 10.1002/ajmg.1320220214.


We describe a boy with the manifestations of the SHORT syndrome: lipoatrophy, delayed speech development, minor facial anomalies, clinodactyly, and short stature. In addition, this boy had deafness, which was not previously reported in the SHORT syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Deafness / genetics
  • Face / abnormalities
  • Fingers / abnormalities
  • Genes, Recessive
  • Growth Disorders / genetics*
  • Humans
  • Lipodystrophy / genetics*
  • Male
  • Speech Disorders / genetics*
  • Syndrome