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Updated: Jun 27, 2026
05:12
Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
Published on: September 19, 2019
[Williams-Beuren syndrome: a multidisciplinary approach]
1Laboratoire langage, mémoire et développement cognitif, CNRS, UMR 6215, 99, avenue du Recteur-Pineau, 86000 Poitiers, France. agnes.lacroix@uhb.fr
Summary
Williams-Beuren syndrome (WBS) is a genetic disorder caused by a 7q11.23 microdeletion. This summary covers WBS genes, cardiovascular issues, and the distinct cognitive profile, aiding in understanding this rare condition.
Area of Science:
- Genetics and Molecular Biology
- Developmental Biology
- Cardiovascular Medicine
Context:
- Williams-Beuren syndrome (WBS) is a rare genetic disorder.
- Characterized by a microdeletion on chromosome 7q11.23, affecting approximately 28 genes.
- Includes the elastin gene, crucial for arterial health.
Purpose:
- To provide a comprehensive overview of Williams-Beuren syndrome.
- To detail the genetic basis, clinical manifestations, and neuropsychological profile.
- To highlight the role of specific genes, particularly elastin, and associated cardiovascular risks.
Summary:
- WBS involves a 7q11.23 microdeletion, impacting multiple genes including elastin.
- Clinical features encompass distinctive facial features, cardiovascular anomalies (e.g., supravalvular aortic stenosis), and developmental delays.
- Neuropsychological profile includes moderate intellectual disability, relative language strengths, visuospatial deficits, and hypersociability.
Impact:
- Enhances understanding of WBS genetics and clinical spectrum.
- Provides critical information for managing cardiovascular complications and developmental needs.
- Informs clinical practice and research for individuals with WBS and related 7q11.23 duplication syndrome.
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