Annals of Indian Academy of Neurology

Year
: 2004  |  Volume : 7  |  Issue : 1  |  Page : 301--304

Cockayne syndrome - A Clinical, Radiological, Audiological And Chromosomal Study


V V Ashraff1, S Sinha2, Sridevi Hegde3, JME Kovoor4, G R Arunodaya5, A B Taly6 
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Correspondence Address:
V V Ashraff


We report two brothers of Cockayne syndrome (CS) with progressive growth retardation, microcephaly, bird headed facies with sunken eyes, cutaneous photosensitivity, retinits pigmentosa, sensorineural deafness, spasticity ataxia, neuropathy and intracranial calcifiactions. These clinical with radiological features of cortical and cerebellar atrophy with basal ganglionic calcification and presence of consanguinity in parents and chromosome studies showing sister chromatid exchange in less than 6% strongly supported the diagnosis of Cockyne syndrome and differentiated it from Bloom«SQ»s syndrome and xeroderma pigmentosa. Without genetic analysis or tests for defective DNA repair, the diagnosis is mostly clinical.


How to cite this article:
Ashraff V, Sinha S, Hegde S, Kovoor J, Arunodaya G, Taly A. Cockayne syndrome - A Clinical, Radiological, Audiological And Chromosomal Study.Ann Indian Acad Neurol 2004;7:301-304


How to cite this URL:
Ashraff V, Sinha S, Hegde S, Kovoor J, Arunodaya G, Taly A. Cockayne syndrome - A Clinical, Radiological, Audiological And Chromosomal Study. Ann Indian Acad Neurol [serial online] 2004 [cited 2019 Aug 18 ];7:301-304
Available from: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2004;volume=7;issue=1;spage=301;epage=304;aulast=Ashraff;type=0