Thoracic Outlet Syndrome: A Significant Family Genetic Phenotypic Presentation

Prague Med Rep. 2016;117(2-3):117-123. doi: 10.14712/23362936.2016.12.

Abstract

We report on a very rare case of diagnosis and successful surgical treatment of three young family members with a four-fold presentation of thoracic outlet syndrome. In the relevant family case, we are considering and discussing the population incidence, a possible HOX genes disorder, and a significant phenotypic presentation.

Keywords: Genes; Mutations; Thoracic outlet syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Humans
  • Phenotype*
  • Thoracic Outlet Syndrome / diagnosis*
  • Thoracic Outlet Syndrome / genetics
  • Thoracic Outlet Syndrome / surgery*
  • Thoracic Surgical Procedures