article · Zenodo (CERN European Organization for Nuclear Research)
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.
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DOI: 10.5281/zenodo.8430942
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