Marfan Syndrome: A Primer for Clinicians and Scientists by Peter N. RobinsonMarfan Syndrome: A Primer for Clinicians and Scientists by Peter N. Robinson

Marfan Syndrome: A Primer for Clinicians and Scientists

byPeter N. RobinsonEditorMaurice Godfrey

Paperback | November 15, 2012

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Historical Introduction The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account VictorA. McKusick l n 1876, E. Williams, an ophthalmologistin Cincinnati, Ohio, described ectopia lentis in a brother and sister who were exceptionally tall and had been loosejointed from birth. I Although there is a Williams syndrome that has aortic manifestations (supravalvar aortic stenosis), the name Williams was never associated with the disorder we now call Marfan syndrome. The reason is clear: Williamswas geographically removed from the leading medical centers and published in the Transactions of the American Ophthalmological Society; surely his report attracted little attention and the non-ocular features were not emphasized. 2 The case report that brought the disorder to attention was provided by a prominent Pari­ sian professor of pediatrics, Antoine Bernard-Jean Marfan (1858-1942), who did much to establish pediatrics as a specialty in France and elsewhere. He was the author of widely read textbooks and monographson pediatrictopics and waseditor of Le Nourrisson for a great many years. In addition to the syndromeunder discussion here, his name is often attached to "Marfan's law" (that immunity to pulmonary phthisis is conferred by the healing of a local tuberculous 3 lesion) and Marfan's subxiphoid approach for aspiratingfluid from the pericardial sac. (Please pardon my use of the possessive form of the eponym in these two instances!) Pictures of Marfan (Fig.
Title:Marfan Syndrome: A Primer for Clinicians and ScientistsFormat:PaperbackDimensions:218 pagesPublished:November 15, 2012Publisher:Springer-Verlag/Sci-Tech/TradeLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:1461347572

ISBN - 13:9781461347576

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Table of Contents

The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account.- Diagnosis and Treatment of Marfan Syndrome - Summary.- Orthopaedic Problems in Marfan Syndrome.- Ophthalmological Aspects.- Cardiovascular Aspects of the Marfan Syndrome: A Systematic Review.- Cardiovascular Surgery: Surgical Management of the Marfan Patient at the Johns Hopkins Hospital.- Surgery for Cardiovascular Disorders in Marfan Syndrome: The Atrioventricular Valves, Distal Aortic Segments and Myocardium.- Mutation Analysis of the FBN1 Gene in Individuals with Marfan Syndrome: Sensitivity, Methods,Clinical Indications.- The Marfan Mutation Database.- Familial Thoracic Aortic Aneurysms and Dissections.- Fibrillin-2 Mutations in Congenital Contractural Arachnodactyly.- Assembly of Microfibrils.- Organization and Biomechanical Properties of Fibrillin Microfibrils.- Microfibril-Associated Glycoprotein-1 (MAGP-1) and Other Non-Fibrillin Macromolecules Which May Possess a Functional Association with the 10 nm Microfibrils.- The Fibrillins and Key Molecular Mechanisms that Initiate Disease Pathways.- Insights into Fibrillin-1 Structure and Function from Domain Studies.- Genetics of Marfan Syndrome in Mouse Models.