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Infantile spasms in two children with Williams syndrome
1Department of Pediatrics, The Ohio State University, Columbus, USA.
American Journal of Medical Genetics
|July 11, 1997
Abstract:
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.