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Het Williams-Beuren-syndroom

  • Published:
Kind en adolescent

Samenvatting

Het syndroom van Williams-Beuren is een vorm van congenitale mentale retardatie, gekenmerkt door een specifieke associatie van lichaamsafwijkingen en dysmorfieën. Het cognitief functioneren valt op door een hoog verbaal functioneren contrasterend met een zwakke performale begaafdheid.

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Authors and Affiliations

  1. www.bsl.nl/shop/kind-en-adolescent-0167-2436.html

    L. M. G. Curfs, M. Hellemans & J. P. Fryns

Authors
  1. L. M. G. Curfs
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  2. M. Hellemans
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  3. J. P. Fryns
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Summary

Williams syndrome is a relatively rare genetic disorder. Characteristic features include, among other things, an unusual neuropsychological profile, cardiovascular abnormalities, elfin-faces, growth retardation and mental retardation. Some of the medical and psychological findings of this metabolic neuro-developmental disorder are presented.

Dr. L.M.G. Curfs, psycholoog, is hoofd van de Research-afdeling van Observatiecentrum/Pedologisch Instituut De Hondsberg in Oisterwijk.

Dr. M. Hellemans is kinderpsychiater en werkzaam bij de RIAGG Roosendaal.

Prof. dr. J.P. Fryns is hoofd van de Genetische Kliniek van het Centrum voor Menselijke Erfelijkheid van de Universiteit van Leuven.

Contactadres: Observatiecentrum/Pedologisch Instituut De Hondsberg, Postbus 10102, 5060 GA Oisterwijk.

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Curfs, L.M.G., Hellemans, M. & Fryns, J.P. Het Williams-Beuren-syndroom. KIAD 15, 17–22 (1994). https://doi.org/10.1007/BF03060535

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  • DOI: https://doi.org/10.1007/BF03060535

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