A case of delayed diagnosis of Williams-Beuren syndrome
1 Child, health and development Research Laboratory, Faculty of Medicine and Pharmacy of Marrakesh, Morocco.
2 Psychiatric department, UHC Mohamed VI, Marrakesh, Morocco.
Case Study
World Journal of Advanced Research and Reviews, 2023, 18(03), 410–412
Article DOI: 10.30574/wjarr.2023.18.3.1087
Publication history:
Received on 29 April 2023; revised on 08 June 2023; accepted on 12 June 2023
Abstract:
Williams or Williams-Beuren syndrome (SWB) is a rare, sporadic and non-hereditary genetic disease, relating to a chromosomal microdeletion at 7q11.23. It is a disorder that affects multiple systems. We deploy a case of a girl in whom the diagnosis of SWB was made by the child psychiatrist at the age of six despite having consulted the front line many times long before. Many children with this disease, as all rare diseases, do not benefit from early diagnosis due to poor doctors' knowledge of this entity. the purpose of this article is to highlight the delay in the diagnosis of this entity by childhood practitioners, which can delay treatment and sometimes worsen the prognosis of evolution.
Keywords:
Williams syndrome; Williams-Beuren syndrome; Child psychiatrist; Diagnosis; Case report
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