Literature DB >> 23285467

A Rare Case of Cockayne Syndrome-MRI Features.

Praveen Mundaganur1.   

Abstract

The Cockayne Syndrome is a rare syndrome of congenital originwhich is charcterized by growth retardation, facial dysmorphism, facial naevi,retinopathy and mental retardation, which are associated with the changes in the brain parenchyma. The findings of MRI of the brain support the clinical diagnosis of the Cockayne Syndrome. We would like to highlight the MRI findings of this rare syndrome.

Entities:  

Keywords:  Brain; Cockayne syndrome; Radiology

Year:  2012        PMID: 23285467      PMCID: PMC3527807          DOI: 10.7860/JCDR/2012/4178.2570

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  8 in total

1.  MRI in the diagnosis of Cockayne's syndrome. One case.

Authors:  P Demaerel; G Wilms; P Verdru; H Carton; A L Baert
Journal:  J Neuroradiol       Date:  1990       Impact factor: 3.447

2.  Cranial CT and MRI in diseases with DNA repair defects.

Authors:  P Demaerel; B E Kendall; D Kingsley
Journal:  Neuroradiology       Date:  1992       Impact factor: 2.804

3.  Xeroderma pigmentosum--Cockayne syndrome complex: a further case.

Authors:  B C Hamel; A Raams; A R Schuitema-Dijkstra; P Simons; I van der Burgt; N G Jaspers; W J Kleijer
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

Review 4.  DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.

Authors:  Alan R Lehmann
Journal:  Biochimie       Date:  2003-11       Impact factor: 4.079

Review 5.  Cockayne syndrome: unusual neuropathological findings and review of the literature.

Authors:  D Soffer; H W Grotsky; I Rapin; K Suzuki
Journal:  Ann Neurol       Date:  1979-10       Impact factor: 10.422

6.  MRI in Cockayne syndrome type I.

Authors:  E Boltshauser; C Yalcinkaya; W Wichmann; F Reutter; A Prader; A Valavanis
Journal:  Neuroradiology       Date:  1989       Impact factor: 2.804

7.  A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene.

Authors:  Ai Komatsu; Satoru Suzuki; Takeshi Inagaki; Koh Yamashita; Kiyoshi Hashizume
Journal:  Am J Med Genet A       Date:  2004-07-01       Impact factor: 2.802

8.  Three novel mutations responsible for Cockayne syndrome group A.

Authors:  Yan Ren; Masafumi Saijo; Yoshimichi Nakatsu; Hiroshi Nakai; Masaru Yamaizumi; Kiyoji Tanaka
Journal:  Genes Genet Syst       Date:  2003-02       Impact factor: 1.517

  8 in total

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