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Clin Case Rep. 2016 Feb 12;4(3):294-7. doi: 10.1002/ccr3.476. eCollection 2016 Mar.

Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting.

Author information

1
Center for Human Genetics University Hospitals Leuven Katholieke Universiteit Leuven Leuven Belgium; Center for Human Genetics Faculty of Medicine University of Kinshasa Kinshasa Democratic Republic of the Congo; Department of Pediatrics Faculty of Medicine University of Kinshasa Kinshasa Democratic Republic of the Congo; Institut National de Recherche Biomedical Kinshasa Democratic Republic of the Congo.
2
Department of Pediatrics Faculty of Medicine University of Kinshasa Kinshasa Democratic Republic of the Congo.
3
Center for Human Genetics Faculty of Medicine University of Kinshasa Kinshasa Democratic Republic of the Congo; Department of Pediatrics Faculty of Medicine University of Kinshasa Kinshasa Democratic Republic of the Congo.
4
Center for Human Genetics University Hospitals Leuven Katholieke Universiteit Leuven Leuven Belgium.

Abstract

Patients with Williams-Beuren Syndrome can be recognized clinically, given the characteristic dysmorphism, intellectual disability, and behavior. We report on a Congolese boy with typical WBS facial characteristics. He suffered meningitis and coma at the age of 2 years then subsequently presented with profound intellectual disability and atypical behavior. The WBS was only made at age 8.2 years and confirmed with FISH testing and microarray-CGH. The present report aims to warn clinicians that infections may associate and/or modify a genetic disease as this may be observed in developing countries given the prevalence of infectious diseases.

KEYWORDS:

Central Africa; Democratic Republic of Congo; Williams syndrome; phenotype

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