Literature DB >> 7174933

Cockayne syndrome.

E D Levinson, A W Zimmerman, M L Grunnet, R A Lewis, T J Spackman.   

Abstract

The diagnosis of Cockayne syndrome was established with the aid of cranial computed tomography (CT) in a child with growth deficiency, mental retardation, and neurologic findings which are typical for this rare childhood disorder. Calcification of basal ganglia and hydrocephalus ex vacuo are neuropathologic characteristics of Cockayne syndrome which may be present on CT as early as 3 years of age.

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Mesh:

Year:  1982        PMID: 7174933     DOI: 10.1097/00004728-198212000-00020

Source DB:  PubMed          Journal:  J Comput Assist Tomogr        ISSN: 0363-8715            Impact factor:   1.826


  6 in total

Review 1.  Hutchinson-Guilford progeria syndrome.

Authors:  P K Sarkar; R A Shinton
Journal:  Postgrad Med J       Date:  2001-05       Impact factor: 2.401

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.  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

4.  Mental retardation syndrome with renal concentration deficiency and intracerebral calcification.

Authors:  O Schofer; R Beetz; J Bohl; A Bornemann; J Oepen; J Spranger
Journal:  Eur J Pediatr       Date:  1990-04       Impact factor: 3.183

5.  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

6.  Distinctive skeletal dysplasia in Cockayne syndrome.

Authors:  M Cirillo Silengo; P Franceschini; R Bianco; M Biagioli; L Pastorin; N Vista; A Baldassar; L Benso
Journal:  Pediatr Radiol       Date:  1986
  6 in total

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