Cockayne Syndrome: A Rare Case Report
Journal Title: International Journal of Medical and Health Sciences - Year 2014, Vol 3, Issue 1
Abstract
Cockayne syndrome(CS )is an autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and dental anomalies. It is a very rare clinical entity and so far only about 150 cases have been reported in the literature. We report a 3 year old child who was diagnosed as Cockayne syndrome, based on clinical, ophthalmic and radiological findings.
Authors and Affiliations
Anitha S Maiya1, Sundip Shenoy, R Jayaram, Reagan Madan, Vasanth Kumar
Keywords
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