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Acral Peeling Skin Syndrome: A Case of Two Brothers

✍ Scribed by Oojwala Wakade; Beth Adams; Tor Shwayder


Book ID
109090835
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
170 KB
Volume
26
Category
Article
ISSN
0736-8046

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Gillespie syndrome: A report of two furt
✍ Nelson, John; Flaherty, Maree; Grattan-Smith, Padraic πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 27 KB πŸ‘ 2 views

We describe two unrelated patients with Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). The typical presentation is the discovery of fixed dilated pupils in a hypotonic infant. The iris abnormality is specific and seems pathognomonic of Gillespie syndrome. It can be