|
Disclaimer:
Whonamedit.com does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
|
A recommendation:
Hypography is an open community about science and all things related
|
|
|
Gillespie's syndrome II
Associated persons:
Frederick D. Gillespie
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. François et al:
Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia).
Ophthalmic Paediatrics and Genetics, Amsterdam, 1984, 4: 29-32.
|
|
|
