Vladimír Bzdúch, Katarína Jariabková
In 1961, a team of cardiologists from New Zealand described a disorder of supravalvular aortic stenosis, mental retardation,
and unusual facial appearance and established a new syndrome. In further years broadening the clinical spectrum
of phenotypic findings has led to identifying the diagnosis of WS in a great many more children, but the etiology
remained unknown up to 1993 when Ewart et al discovered that WS was caused by a haploinsufficiency of genes with
microdeletion at 7q11.23. Despite of relatively rare occurence, great attention have been devoted to this syndrome
in Slovakia. In 1991 Williams Syndrome Association was set up and in collaboration with this association, research of
many aspects of this syndrome began. The outcomes of this research were published in Slovak and Czech journals,
which helped to spread knowledge about WS in the medical community. The more significant results of our research
have been published in international journals.The purpose of this study was to summarize research activities about Williams
syndrome in Slovakia.