Tsao C Y, Westman J A
Department of Pediatrics, The Ohio State University, Columbus, USA.
Am J Med Genet. 1997 Jul 11;71(1):54-6.
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.
我们描述了两名患有威廉姆斯综合征和婴儿痉挛症的儿童。通过记录7q11.23处弹性蛋白基因/威廉姆斯综合征区域的缺失，确诊了威廉姆斯综合征。通过发作间期高度失律的存在确诊了婴儿痉挛症。这是威廉姆斯综合征中婴儿痉挛症的首批报告之一。
