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Infantile spasms in two children with Williams syndrome

✍ Scribed by Tsao, Chang Y.; Westman, Judith A.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 8 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970711)71:1<54::aid-ajmg10>3.0.co;2-u

No coin nor oath required. For personal study only.

✦ Synopsis

We describe two children with Williams syndrome and infantile spasms. The diagnosis of Williams syndrome was confirmed by documentation of a deletion of the elastin gene/Williams syndrome region at 7q11.23. The diagnosis of infantile spasms was confirmed through the presence of interictal hypsarrhythmia. This represents one of the first reports of infantile spasms in the Williams syndrome.

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