title: Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting.
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.
authors.affiliation: 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.
authors.forename: Aimé
authors.initials: A
authors.lastname: Lumaka
authors.affiliation: Department of Pediatrics Faculty of Medicine University of Kinshasa Kinshasa Democratic Republic of the Congo.
authors.forename: Rita
authors.initials: R
authors.lastname: Lukoo
authors.affiliation: 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.
authors.forename: Gerrye
authors.initials: G
authors.lastname: Mubungu
authors.affiliation: 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.
authors.forename: Paul
authors.initials: P
authors.lastname: Lumbala
authors.affiliation: 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.
authors.forename: Gloire
authors.initials: G
authors.lastname: Mbayabo
authors.affiliation: Department of Pediatrics Faculty of Medicine University of Kinshasa Kinshasa Democratic Republic of the Congo.
authors.forename: Aimée
authors.initials: A
authors.lastname: Mupuala
authors.affiliation: 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.
authors.forename: Prosper Lukusa
authors.initials: PL
authors.lastname: Tshilobo
authors.affiliation: Center for Human Genetics University Hospitals Leuven Katholieke Universiteit Leuven Leuven Belgium.
authors.forename: Koenraad
authors.initials: K
authors.lastname: Devriendt
keywords: Central Africa; Democratic Republic of Congo; Williams syndrome; phenotype