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Costello syndrome and neurological abnormalities

✍ Scribed by Delrue, Marie-Ange ;Chateil, Jean-Fran�ois ;Arveiler, Benoit ;Lacombe, Didier

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 120 KB
Volume: 123A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20330

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✦ Synopsis

Abstract

Costello syndrome is a rare but increasingly recognized syndrome of unknown etiology. Neurological abnormalities are not rare in this syndrome and consist of structural and electrophysiological disorders. Ventricular dilatation is observed in more than 40% of cases. Other reported cerebral anomalies are brain atrophy, Chiari malformation and syringomyelia. Although there is insufficient data to propose strict guidelines, it seams reasonnable to have a low threshold for neuroimaging, in general, and particularly when neurologic signs or symptoms are present. Screening including cerebral MRI and EEG should be proposed after a diagnosis of Costello syndrome. The frequency of testing in such children should be guided by neurological follow‐up. © 2003 Wiley‐Liss, Inc.

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