Williams Beuren

  • In 1961 J.C. Williams described several children presenting: a cardiac malformation, an intellectual disability and characteristic facial traits

  • In 1964 Beuren described the same association, adding a stenosis of the pulmonary artery and dental defects.

  • In 1993 the base chromosome of Williams-Beuren was discovered, caused by a microdeletion in the long arm of the 7th chromosome.

  •  This syndrome is relatively rare, with a rate of 1/10,000 to 1/20.000.

+ Further information can be found on the Jérôme Lejeune Institute website

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