Arterial tortuosity syndrome

Am J Med Genet. 2000 Mar 13;91(2):141-3.


We describe a patient with arterial tortuosity syndrome (ATS), a rare disorder comprising generalized tortuosity and elongation of all major arteries, soft skin, joint laxity, severe keratoconus, and diffuse tortuosity of the carotids and of intracranial arteries. The patient's probably affected brother and sister died at an early age. Cytochemical studies excluded Ehlers-Danlos type IV and type VII syndromes. We review 11 previously described patients.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adolescent
  • Angiography
  • Arteries / abnormalities*
  • Carotid Arteries / abnormalities
  • Fibroblasts / metabolism
  • Humans
  • Keratoconus / diagnosis
  • Male
  • Obesity / diagnosis
  • Syndrome
  • Vascular Diseases / diagnosis*