We describe a patient with arterial tortuosity syndrome (ATS), a rare disor
der 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 bro
ther and sister died at an early age. Cytochemical studies excluded Ehlers-
Danlos type IV and type VII syndromes. We review 11 previously described pa
tients. (C) 2000 Wiley-Liss, Inc.