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Published on: October 9, 2011
[Marfan's syndrome in Iceland.]
Laeknabladid
|January 13, 2010
Summary
Marfan
Area of Science:
- Genetics
- Cardiology
- Ophthalmology
Context:
- Marfan syndrome is a rare, autosomal dominant heritable connective tissue disorder affecting multiple systems.
- Previous prevalence and clinical data for Marfan syndrome in Iceland were limited.
Purpose:
- To determine the prevalence and clinical characteristics of Marfan syndrome in Iceland.
- To assess ocular, skeletal, and cardiovascular manifestations in diagnosed patients.
Summary:
- The study identified 17 definitive cases of Marfan syndrome among 22 evaluated patients, establishing a prevalence of 6.5/100,000 in Iceland.
- Common findings included ocular (82%), cardiovascular (65%) with aortic root dilatation (53%), and skeletal abnormalities in all patients.
- The clinical presentation aligns with international findings, confirming Marfan syndrome's presence and characteristics in Iceland.
Impact:
- Provides crucial epidemiological data on Marfan syndrome in Iceland.
- Highlights the multi-systemic nature and typical clinical features of the disorder.
- Informs clinical practice and genetic counseling for Marfan syndrome patients in the region.
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