Images in clinical medicine. Bifid uvula and aortic aneurysm

N Engl J Med. 2008 Jul 10;359(2):e2. doi: 10.1056/NEJMicm070582.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Adult
  • Aortic Aneurysm / diagnostic imaging*
  • Aortic Aneurysm / genetics
  • Craniofacial Abnormalities / genetics*
  • Funnel Chest / genetics*
  • Genes, Dominant
  • Humans
  • Male
  • Mutation
  • Protein Serine-Threonine Kinases / genetics
  • Receptor, Transforming Growth Factor-beta Type II
  • Receptors, Transforming Growth Factor beta / genetics
  • Syndrome
  • Ultrasonography
  • Uvula / abnormalities*

Substances

  • Receptors, Transforming Growth Factor beta
  • Protein Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type II