COCKAYNE SYNDROME- A RARE CASE REPORT
Journal: University Journal of Medicine and Medical Specialities (Vol.4, No. 3)Publication Date: 2018-05-30
Authors : SRIVIDHYA;
Page : 86-87
Keywords : Cockayne; progeria; photosensitivity;
Abstract
Cockayne syndrome is a rare genetic disorder with an incidence of 2.7 per million live births. We hereby present a case report of a 12 year old boy who presented with failure to gain weight and height appropriate for age and progressive hard of hearing. Examination revealed senile appearance, cachectic dwarfism, facial dysmorphism, microcephaly with mental retardation, cutaneous photosensitivity, sensorineural type of hearing loss and features of peripheral neuropathy thus fitting into the diagnosis of Cockayne syndrome.
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