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Gillespie's syndrome II

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A rare familial syndrome present from birth and affecting both sexes, characterised by eye abnormalities, congenital nonprogressive partial cerebellar ataxia with hypotonia.

Description

A rare familial syndrome present from birth and affecting both sexes, characterised by partial or complete aniridia, aplasia involving only the pupillary zone of the iris, and congenital nonprogressive bilateral partial cerebellar ataxia with hypotonia. Other features include scanning speech, incoordination and attention tremor, and mental and motor retardation. Aetiology unknown. Inheritance is autosomal recessive

In 1965 Frederick Gillespie first described the condition in two siblings with partial aniridia, ataxia and mental retardation.

Bibliography

  • F. D. Gillespie:
    Aniridia, cerebellar ataxia and oligophrenia in siblings.
    Archives of Ophthalmology, Chicago, 1965; 73: 338-341.
  • J. Fran├žois et al:
    Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia).
    Ophthalmic Paediatrics and Genetics, Amsterdam, 1984, 4: 29-32.

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