Williams-Beuren Syndrome: About A Case
Journal Title: Scholars Journal of Medical Case Reports - Year 2017, Vol 5, Issue 12
Abstract
Abstract:Williams-Beuren syndrome is a rare genetic disease with an incidence of 1 / 200000, characterized by evocative facial dysmorphism, cardiac malformations, psycho-motor retardation, specific cognitive and behavioral profile and impairment endocrine. Its treatment is symptomatic so that its management is multidisciplinary. We report a case of Williams-Beuren syndrome revealed by stunting. Keywords:Williams-Beuren syndrome, growth retardation, microdeletion of chromosome region q11.23.
Authors and Affiliations
Sara Askaoui, Guizlane El Mghari, Nawal El Ansari
Keywords
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