Diagnostic path of a genetic disease: a case of Williams-Beuren syndrome in Burkina Faso
| Autor: | Makoura Barro, Bintou Sanogo, Aimée S. Kissou, Ad Bafa Ibrahim Ouattara, Boubacar Nacro |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: | |
| Zdroj: | Pediatric Reports, Vol 7, Iss 4 (2015) |
| Druh dokumentu: | article |
| ISSN: | 2036-749X 2036-7503 |
| DOI: | 10.4081/pr.2015.5817 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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