Friday, January 28, 2011

Cockayne syndrome

Cockayne syndrome

Cockayne syndrome was first described in 1936 by English doctor Cockayne. It is a rare disorder associated with trisomy 20.



It is characterized by:

- mental retardation,

- optic atrophy,

- dwarfism,

- perception deafness,

- skin hypersensitivity to sunlight,

- pigmentary degeneration of the retina and

- cataracts.



You can also meet:

- deficits in cerebellar, pyramidal and extrapyramidal,

- peripheral neuropathy

- normal pressure hydrocephalus.



Patients may suffer from a facial deformity called "chicken head facies"

1 comment:

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