[Familial occurrence of Elfin's face (Williams-Beurens Syndrome =wbs) and supravalvular aortic stenosis (= svas) (author's transl)].
Three siblings out of two families -- the mothers being sisters -- have signs of WBS: a girl shows the complete picture of elfin's face syndrome; a boy who needed surgical treatment for severe supravalvular aortic stenosis, presents only with minimal signs of the peculiar facies like his mother. His brother has slight supravalvular aortic stenosis. The three children described show trivial peripheral pulmonary stenosis. It is known that SVAS and WBS may show a dominant mode of inheritance with variable expressivity. The purpose of this study was to find signs which would prove a dominant inheritance in this kinship. Dental malpositions and coarse upperlip with shallow philtrum where the only symptomes found in the patients and their mothers. If we accept this traits as markers for the syndrome than we could assume a dominant way of inheritance.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001024:Aortic Valve Stenosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D008046:Lip / Q000002:abnormalities; D008297:Male; D010375:Pedigree; D011666:Pulmonary Valve Stenosis / Q000235:genetics; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics
Zum familiären Auftreten des Williams-Beuren-Syndroms und der supravalvulären Aortenstenose.