25/01/2018 · A study published this week in the Orphanet Journal of Rare Diseases confirmed the importance of genetic findings in the diagnosis of Marfan syndrome. clinical features, and diagnosis of Marfan syndrome and related disorders. diagnosis and management in the child. The Marfan Syndrome: Diagnosis and Management. Pyeritz RE, McKusick VA. The Marfan syndrome: diagnosis and management. Many children will. com 30/05/2017 · Given the variable expressivity of Marfan syndrome (MFS), no single sign is pathognomic.