Pediatric Loeys-Dietz Syndrome

  • Etiology: vasculopathy due to connective tissue disorder involving transforming growth factor pathway which predisposes to aortic and arterial aneurysms
  • Imaging: widespread arterial involvement with aggressive course
  • Complications: vessel tortuosity, aneurysm, dissection
  • Clinical: hypertelorism, bifid uvula, cleft palate

Radiology Cases of Loeys-Dietz Syndrome