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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.

SUBMITTER: Lumaka A 

PROVIDER: S-EPMC4771852 | biostudies-other | 2016 Mar

REPOSITORIES: biostudies-other

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