Literature DB >> 10748415

Arterial tortuosity syndrome.

P Franceschini1, A Guala, D Licata, G Di Cara, D Franceschini.   

Abstract

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. Copyright 2000 Wiley-Liss, Inc.

Entities:  

Mesh：

Year:  2000        PMID： 10748415

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  10 in total

Review 1.  Marfan syndrome. Part 1: pathophysiology and diagnosis.

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Journal:  Nat Rev Cardiol       Date:  2010-03-30       Impact factor: 32.419

2.  A neonate with cyanosis and tortuous great arteries.

Authors:  M Pilati; G B Luciani; M A Prioli; G Puppini
Journal:  Pediatr Cardiol       Date:  2009-07-14       Impact factor: 1.655

3.  Twist buckling behavior of arteries.

Authors:  Justin R Garcia; Shawn D Lamm; Hai-Chao Han
Journal:  Biomech Model Mechanobiol       Date:  2012-11-16

Review 4.  Ehlers-Danlos syndrome and neurological features: a review.

Authors:  Salvatore Savasta; Pietro Merli; Martino Ruggieri; Lucia Bianchi; Maria Valentina Spartà
Journal:  Childs Nerv Syst       Date:  2010-08-10       Impact factor: 1.475

5.  A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.

Authors:  Syed H E Zaidi; Sascha Meyer; Vanya D Peltekova; Angelika Lindinger; Ahmad S Teebi; Muhammad Faiyaz-Ul-Haque
Journal:  Eur J Pediatr       Date:  2008-09-26       Impact factor: 3.183

6.  Arterial tortuosity syndrome in two Italian paediatric patients.

Authors:  Marco Ritelli; Bruno Drera; Mariano Vicchio; Giovanni Puppini; Paolo Biban; Mara Pilati; Maria Antonia Prioli; Sergio Barlati; Marina Colombi
Journal:  Orphanet J Rare Dis       Date:  2009-09-25       Impact factor: 4.123

Review 7.  Causes and histopathology of ascending aortic disease in children and young adults.

Authors:  Deepali Jain; Harry C Dietz; Gretchen L Oswald; Joseph J Maleszewski; Marc K Halushka
Journal:  Cardiovasc Pathol       Date:  2011 Jan-Feb       Impact factor: 2.185

8.  Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis.

Authors:  Olivier M Vanakker; Dimitri Hemelsoet; Anne De Paepe
Journal:  Stroke Res Treat       Date:  2011-01-20

Review 9.  Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

Authors:  Marco Ritelli; Nicola Chiarelli; Chiara Dordoni; Elena Reffo; Marina Venturini; Stefano Quinzani; Matteo Della Monica; Gioacchino Scarano; Giuseppe Santoro; Maria Giovanna Russo; Piergiacomo Calzavara-Pinton; Ornella Milanesi; Marina Colombi
Journal:  BMC Med Genet       Date:  2014-11-06       Impact factor: 2.103

10.  Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.

Authors:  Mahesh Kappanayil; Sheela Nampoothiri; Rajesh Kannan; Marjolijn Renard; Paul Coucke; Fransiska Malfait; Swapna Menon; Hiran K Ravindran; Renu Kurup; Muhammad Faiyaz-Ul-Haque; Krishna Kumar; Anne De Paepe
Journal:  Orphanet J Rare Dis       Date:  2012-09-03       Impact factor: 4.123
  10 in total

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