Document Detail

Arterial tortuosity syndrome.
MedLine Citation:
PMID:  10748415     Owner:  NLM     Status:  MEDLINE    
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.
P Franceschini; A Guala; D Licata; G Di Cara; D Franceschini
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  91     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2000 Mar 
Date Detail:
Created Date:  2000-04-21     Completed Date:  2000-04-21     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  141-3     Citation Subset:  IM    
Copyright Information:
Copyright 2000 Wiley-Liss, Inc.
Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università degli Studi di Torino, Torino, Italy.
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MeSH Terms
Abnormalities, Multiple / diagnosis*
Arteries / abnormalities*
Carotid Arteries / abnormalities
Fibroblasts / metabolism
Keratoconus / diagnosis
Obesity / diagnosis
Vascular Diseases / diagnosis*

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