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

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


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.

Publication types

  • Case Reports