title: Infantile spasms in two children with Williams syndrome.
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.
authors.affiliation: Department of Pediatrics, The Ohio State University, Columbus, USA.
authors.forename: C Y
authors.initials: CY
authors.lastname: Tsao
authors.forename: J A
authors.initials: JA
authors.lastname: Westman
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002897:Chromosomes, Human, Pair 7; D004549:Elastin / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D013036:Spasms, Infantile / Q000150:complications* / Q000235:genetics; D018980:Williams Syndrome / Q000150:complications* / Q000235:genetics
chemical_list: D004549:Elastin