Arterial tortuosity syndrome.
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.
Franceschini
P
P
Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università degli Studi di Torino, Torino, Italy. francesc@pediatria.unito.it
Guala
A
A
Licata
D
D
Di Cara
G
G
Franceschini
D
D
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D000792:Angiography; D001158:Arteries / Q000002:abnormalities*; D002339:Carotid Arteries / Q000002:abnormalities; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007640:Keratoconus / Q000175:diagnosis; D008297:Male; D009765:Obesity / Q000175:diagnosis; D013577:Syndrome; D014652:Vascular Diseases / Q000175:diagnosis*