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Keywords:

  • Williams–Beuren syndrome;
  • supravalvular aortic stenosis;
  • infantile hypercalcemia;
  • overfriendly behavior;
  • peripheral pulmonary stenosis

Abstract

Williams–Beuren syndrome (WBS) is one of the microdeletion syndromes associated with distinct facial features, characteristic behavior phenotype (overfriendly behavior), congenital heart disease, and other malformations. Clinical features in WBS are age dependent. It is important to be aware of variable age dependent phenotype, especially facial phenotype due to its crucial role in diagnosis. Here we describe the facial phenotype of WBS at different ages (3 months to 15.1 years) and congenital heart malformations in 27 patients FISH positive for 7q11.23 microdeletion. © 2012 Wiley Periodicals, Inc.