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Fanconi-Turler syndrome

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A syndrome marked by cerebellar ataxia associated with uncoordinated eye movements, nystagmus, dysmetria, and mental retardation.

Description

A syndrome marked by cerebellar ataxia associated with uncoordinated eye movements, nystagmus, dysmetria, and mental retardation. Both sexes equally affected. A congenital, probably familial disturbance.

In all three originally described cases, the pneumoencephalographic examination showed signs of atrophy of the cerebellum and, probably, of the brain stem, and the EEG indicated involvement of the cerebral cortex. One infant was born to consanguinous parents, and two were delivered following complicated labour.

Bibliography

  • G. Fanconi, U. Turler:
    Congenitale Kleinhirnatrophie mit supranuclearen Störungen der Motilität der Augenmuskeln.
    Helvetica paediatrica acta, Basel, 1951, 6: 479-483.

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