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PPM –Evaluation of the individual with Suspected M ...
Description and References
Description and References
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This document provides an evaluation of individuals with suspected Marfan syndrome for clinical geneticists. The correct diagnosis of Marfan syndrome is crucial to ensure that unaffected individuals are not wrongly restricted and affected individuals are appropriately monitored. The guidelines published by the American College of Medical Genetics and Genomics (ACMG) and the revised Ghent consensus criteria are important tools for accurate diagnosis and management of patients and their families. The document references several literature sources including GeneReviews at GeneTests: Medical Genetics Information Resource, a study by Pyeritz and the American College of Medical Genetics and Genomics, an article by Lacro et al. on a randomized clinical trial comparing beta blocker therapy and angiotensin II receptor blocker therapy in individuals with Marfan syndrome, and the revised Ghent nosology for Marfan syndrome.<br /><br />The document also mentions the importance of utilizing the revised guidelines for assessing patients with features suggestive of Marfan syndrome and recognizing the nomenclature used for patients who do not meet the clinical diagnosis of Marfan syndrome. It highlights the need for accurate diagnosis and management in order to provide appropriate care to patients and their family members.<br /><br />The document does not provide an overview of the evaluation process or specific details about the features and symptoms of Marfan syndrome. However, it serves as a guide for clinical geneticists involved in the diagnosis and counseling of patients with suspected Marfan syndrome. It is intended to improve the accuracy of diagnosis and management by providing essential guidelines and references to relevant literature sources.
Keywords
Marfan syndrome
clinical geneticists
evaluation
diagnosis
management
American College of Medical Genetics and Genomics
revised Ghent consensus criteria
GeneReviews
Pyeritz study
beta blocker therapy
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