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Am J Med Genet A. 2003 Dec 15;123A(3):301-5.

Costello syndrome and neurological abnormalities.

Author information

1
Department of Medical Genetics, Pellegrin-Children's Universitary Hospital, Bordeaux, France.

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.

PMID:
14608654
DOI:
10.1002/ajmg.a.20330
[Indexed for MEDLINE]

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