[Williams-Beuren syndrome in Norway]
1Barnehjerteseksjonen Rikshospitalet, Oslo.
Summary
Williams-Beuren syndrome, a genetic disorder, presents with distinct facial features and cognitive challenges. Early recognition is crucial as it is likely underdiagnosed, impacting affected children.
Area of Science:
- Genetics
- Pediatrics
- Medical syndromes
Context:
- Williams-Beuren syndrome (WBS) is a rare genetic disorder.
- The study examines 57 WBS cases to improve understanding and diagnosis.
- WBS is potentially underdiagnosed, necessitating increased awareness.
Purpose:
- To describe the characteristic facial and cognitive features of Williams-Beuren syndrome.
- To highlight the prevalence of cardiac abnormalities, particularly supravalvular aortic stenosis and peripheral pulmonic stenosis.
- To illustrate the varied facial presentations across different age groups and ethnicities.
Summary:
- Williams-Beuren syndrome involves distinctive facial morphology (e.g., broad philtrum, small chin, dental hypoplasia) and a specific cognitive profile (e.g., sociable, talkative, difficulty concentrating).
- Cardiac defects are common, with 53% of patients affected, primarily by supravalvular aortic stenosis and/or peripheral pulmonic stenosis.
- Facial features are documented across diverse demographics, aiding in recognition.
Impact:
- Increased awareness and earlier diagnosis of Williams-Beuren syndrome.
- Improved identification of associated cardiac conditions, enabling timely intervention.
- Enhanced clinical recognition of WBS through visual documentation of facial phenotypes.
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