Literature DB >> 7137233

Cockayne syndrome with early onset of manifestations.

D B Moyer, P Marquis, M E Shertzer, B K Burton.   

Abstract

The Cockayne syndrome is an autosomal recessive syndrome of growth failure and characteristic physical and pathological changes. Typically the disorder becomes manifest in the second year of life; growth and development are normal during the first year. We report presumably monozygotic twins with otherwise classic Cockayne syndrome but with a prenatal onset. Several previously described cases seem to represent a similar form of Cockayne syndrome with early onset of growth failure and development delay.

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Year:  1982        PMID: 7137233     DOI: 10.1002/ajmg.1320130213

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


  4 in total

1.  Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.

Authors:  M A Patton; F Giannelli; A J Francis; M Baraitser; B Harding; A J Williams
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318

2.  Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome.

Authors:  J Jaeken; H Klocker; H Schwaiger; R Bellmann; M Hirsch-Kauffmann; M Schweiger
Journal:  Hum Genet       Date:  1989-11       Impact factor: 4.132

3.  A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.

Authors:  Jonathan M Swartz; Aysehan Akinci; Shayne F Andrew; Ahmet Siğirci; Joel N Hirschhorn; Ron G Rosenfeld; Andrew Dauber; Vivian Hwa
Journal:  Horm Res Paediatr       Date:  2014-11-01       Impact factor: 2.852

4.  Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset.

Authors:  H Nishio; S Kodama; T Matsuo; M Ichihashi; H Ito; Y Fujiwara
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

  4 in total

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