Cockayne Syndrome
Journal Title: Journal of Medical Science And clinical Research - Year 2015, Vol 3, Issue 7
Abstract
Cockayne syndrome is one of the rare genetic disorders. The pattern of inheritance is autosomal recessive. The characteristic features of cockayne syndrome include short stature, pigmentary retinopathy, birdlikefacies, poor weight gain, microcephaly and photosensitivity. Associated features may include deafness, dental decay and neurological abnormalities. Cockayne syndrome have 3 subtypes, Type I or classical form is characterized by early onset symptoms (usually within 1-2 years) and type II is severe form of disease and signs and symptoms are usually present at birth it’s also called pena-Shokeir syndrome. The mildest variety of cockayne syndrome is type III in which the symptoms are mild and usually present later in childhood. We present here a case of 7 year old female child who was admitted to us with complaints of non attainment of motor milestones like standing or walking and decrease vision and hearing since 2-3 years. The characteristic facies, microcephaly, bat like ears, dwarfism, photosensitivity and bilateral optic atrophy lead us to the diagnosis of cockayne syndrome.
Authors and Affiliations
Dr Nita R Sutay
Keywords
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