[Monozygotic twins with Williams-Beuren or 'elfen-face' syndrome].
Monozygotic male twins with the Williams-Beuren or 'elfin-face' syndrome are described. One twin showed the typical signs of supravalvular aortic stenosis, which is consistent with the cardiovascular symptoms usually found in this syndrome. The somatic and genetic aspects of the syndrome are discussed by reviewing the literature.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001024:Aortic Valve Stenosis / Q000235:genetics; D002648:Child; D004200:Diseases in Twins; D005145:Face / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome; D014430:Twins, Monozygotic; D014807:Vitamin D / Q000378:metabolism
D014807:Vitamin D
Monozygote tweeling met het Williams-Beuren of 'elfin-face' syndroom.