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Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)
Ilaria Baldelli1,2, Alessio Baccarani3, Chiara Barone4
1Policlinico San Martino Hospital IRCCS for Oncology, Genoa, Italy.
Insights
Poland syndrome is a rare congenital condition causing muscle underdevelopment on one side of the body. This study offers expert-based recommendations for diagnosing and managing Poland syndrome, aiding affected individuals.
Area of Science:
- Medical Genetics
- Congenital Disorders
- Skeletal Muscle Physiology
Background:
- Poland syndrome is a rare congenital disorder characterized by unilateral muscle deficiency affecting the chest, shoulder, arm, and hand.
- The condition presents with variable severity and extent of abnormalities among affected individuals.
- Understanding Poland syndrome is crucial for timely diagnosis and effective management.
Purpose of the Study:
- To establish evidence-based recommendations for the diagnosis and management of Poland syndrome.
- To synthesize findings from a comprehensive literature review and expert clinical experience.
- To provide guidance for healthcare professionals involved in the care of individuals with Poland syndrome.
Main Methods:
- A systematic literature search was conducted in the latter half of 2019.
- Review of original papers, meta-analyses, reviews, books, and clinical guidelines.
- Development of recommendations through expert consensus from multidisciplinary healthcare professionals.
Main Results:
- The study provides a consolidated set of recommendations for Poland syndrome diagnosis and management.
- Recommendations are based on current scientific literature and extensive clinical experience.
- Consensus was reached among experts from various medical specialties.
Conclusions:
- Poland syndrome requires a multidisciplinary approach for optimal patient outcomes.
- The presented recommendations represent best clinical practice for this rare condition.
- Further research may refine diagnostic and management strategies for Poland syndrome.
Background:
Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.
Main Body:
The aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus.
Conclusion:
Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts.
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