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Volume 7
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10.4081/pr.2015.5817
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Case Report

Diagnostic Path of a Genetic Disease: A Case of Williams-Beuren Syndrome in Burkina Faso

by
Makoura Barro
*,
Bintou Sanogo
,
Aimée S. Kissou
,
Ad Bafa Ibrahim Ouattara
and
Boubacar Nacro
Department of Pediatrics, Souro Sanou Teaching Hospital, Bobo-Dioulasso, Burkina Faso
*
Author to whom correspondence should be addressed.
Pediatr. Rep. 2015, 7(4), 5817; https://doi.org/10.4081/pr.2015.5817
Submission received: 17 January 2015 / Accepted: 6 October 2015 / Published: 17 December 2015

Abstract

Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral abnormalities, which is caused by a deletion of several genes. Herein we report a 6 year-old boy, who presented with mental retardation and psychological disorders. The result of the first clinical examination was poor, since it didn’t detect any dysmorphic feature which is a major component for the clinical diagnosis of WBS. Despite the multidisciplinary and the multicenter approaches used, the diagnosis of WBS (deletion of chromosome band 7q11. 23) was established more than 3 years after the first medical consultation. Rare partial forms of WBS have been recently described and they are both clinically and genetically difficult to diagnose. Unfortunately, this disorder is still little known by health professionals.
Keywords: Williams-Beuren; neurodevelopmental disorder; deletion 7q11.23 Williams-Beuren; neurodevelopmental disorder; deletion 7q11.23

Share and Cite

MDPI and ACS Style

Barro, M.; Sanogo, B.; Kissou, A.S.; Ouattara, A.B.I.; Nacro, B. Diagnostic Path of a Genetic Disease: A Case of Williams-Beuren Syndrome in Burkina Faso. Pediatr. Rep. 2015, 7, 5817. https://doi.org/10.4081/pr.2015.5817

AMA Style

Barro M, Sanogo B, Kissou AS, Ouattara ABI, Nacro B. Diagnostic Path of a Genetic Disease: A Case of Williams-Beuren Syndrome in Burkina Faso. Pediatric Reports. 2015; 7(4):5817. https://doi.org/10.4081/pr.2015.5817

Chicago/Turabian Style

Barro, Makoura, Bintou Sanogo, Aimée S. Kissou, Ad Bafa Ibrahim Ouattara, and Boubacar Nacro. 2015. "Diagnostic Path of a Genetic Disease: A Case of Williams-Beuren Syndrome in Burkina Faso" Pediatric Reports 7, no. 4: 5817. https://doi.org/10.4081/pr.2015.5817

APA Style

Barro, M., Sanogo, B., Kissou, A. S., Ouattara, A. B. I., & Nacro, B. (2015). Diagnostic Path of a Genetic Disease: A Case of Williams-Beuren Syndrome in Burkina Faso. Pediatric Reports, 7(4), 5817. https://doi.org/10.4081/pr.2015.5817

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