Literature DB >> 17935247

Aortic dilatation in Cockayne syndrome.

Caroline Ovaert1, Aline Cano, Brigitte Chabrol.   

Abstract

Cockayne syndrome is a rare growth failure and premature aging disorder featuring abnormal ultraviolet sensitivity and impaired transcription-coupled DNA repair. Cardiac involvement has not been described in Cockayne patients except for one recently described case of dilated cardiomyopathy. We describe one patient in whom marked ascending aorta dilatation was observed together with mild aortic regurgitation. Ascending aorta dilatation might be another feature of premature aging in Cockayne syndrome and may require cardiovascular investigation and monitoring. Copyright 2007 Wiley-Liss, Inc.

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Year:  2007        PMID: 17935247     DOI: 10.1002/ajmg.a.31986

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  3 in total

Review 1.  Cockayne syndrome: Clinical features, model systems and pathways.

Authors:  Ajoy C Karikkineth; Morten Scheibye-Knudsen; Elayne Fivenson; Deborah L Croteau; Vilhelm A Bohr
Journal:  Ageing Res Rev       Date:  2016-08-06       Impact factor: 10.895

2.  The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

Authors:  Brian T Wilson; Zornitza Stark; Ruth E Sutton; Sumita Danda; Alka V Ekbote; Solaf M Elsayed; Louise Gibson; Judith A Goodship; Andrew P Jackson; Wee Teik Keng; Mary D King; Emma McCann; Toshino Motojima; Jennifer E Murray; Taku Omata; Daniela Pilz; Kate Pope; Katsuo Sugita; Susan M White; Ian J Wilson
Journal:  Genet Med       Date:  2015-07-23       Impact factor: 8.822

3.  Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome.

Authors:  Shuiyan Wu; Ying Liu; Qian Zhang; Xiangying Meng; Linlin Huang; Zhong Xu; Chunxu Zhang; Ying Li; Ting Chen; Zhenjiang Bai
Journal:  Mol Genet Genomic Med       Date:  2020-03-11       Impact factor: 2.183

  3 in total

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