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

[en] 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.

Disciplines :

Genetics & genetic processes

Author, co-author :

Lumaka Zola, Aimé ; Université de Liège - ULiège > Human Genetics

Lukoo, Rita

Mubungu, Gerrye

Lumbala, Paul

Mbayabo, Gloire

Mupuala, Aimee

Tshilobo, Prosper Lukusa

Devriendt, Koenraad

Language :

English

Title :

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

Publication date :

2016

Journal title :

Clinical Case Reports

eISSN :

2050-0904

Publisher :

Wiley-Blackwell, Hoboken, United Kingdom

Volume :

Issue :

Pages :

294-7

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 18 January 2019

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Bibliography

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