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Marfan Syndrome: A Clinical Update.
Adam D Bitterman1, Paul D Sponseller
1From the Department of Orthopaedic Surgery, Hofstra Northwell School of Medicine, Hempstead, NY (Dr. Bitterman) and the Department of Orthopaedic Surgery, The Johns Hopkins University, Baltimore, MD (Dr. Sponseller).
The Journal of the American Academy of Orthopaedic Surgeons
|August 25, 2017
Summary
Marfan syndrome, a connective tissue disorder, frequently presents with orthopedic issues. Understanding its skeletal manifestations is crucial for early diagnosis and effective patient management by orthopedic surgeons.
Area of Science:
- Orthopedics
- Genetics
- Rheumatology
Background:
- Marfan syndrome is a genetic connective tissue disorder impacting multiple organ systems.
- Orthopedic manifestations are common throughout a patient's life, often causing pain and necessitating surgical intervention.
- Increased longevity in Marfan syndrome patients highlights the need for comprehensive, lifelong care.
Purpose of the Study:
- To emphasize the critical role of orthopedic surgeons in recognizing and managing Marfan syndrome.
- To underscore the importance of understanding Marfan syndrome's skeletal phenotypes for timely diagnosis and treatment.
- To inform orthopedic surgeons about current diagnostic criteria, therapeutic advances, and lifestyle considerations for patients with Marfan syndrome.
Main Methods:
- Review of current literature on Marfan syndrome, focusing on orthopedic manifestations.
- Analysis of diagnostic criteria and evolving understanding of the skeletal phenotype.
- Examination of recent advancements in medical therapies and lifestyle management.
Main Results:
- Marfan syndrome presents with diverse orthopedic issues across all age groups.
- Early recognition of skeletal abnormalities by orthopedic surgeons can lead to prompt Marfan syndrome screening.
- Advances in treatment allow patients to live longer, more active lives, requiring ongoing orthopedic care.
Conclusions:
- Orthopedic surgeons are pivotal in the early identification of Marfan syndrome.
- A thorough understanding of Marfan syndrome's orthopedic aspects is essential for optimal patient outcomes.
- Continuous education on diagnostic criteria and treatment advancements is vital for clinicians managing these patients.
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