Supra-valvular aortic stenosis with mental retardation: a case of William Beuren syndrome

ABSTRACT

Supravalvular Aortic Stenosis [SVAS] with elfin fades and mental sub normality is the hallmark of William Beuren Syndrome [WBS]. The diagnostic confirmation abroad is done with cytogenetic studies with fluorescent in situ hybridization [FISH]. We have to base our diagnosis on available clinical information alone