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Books > Medicine > Clinical & internal medicine > Musculoskeletal medicine
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Marfan Syndrome - A Primer for Clinicians and Scientists (Hardcover, 2004 ed.)
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Marfan Syndrome - A Primer for Clinicians and Scientists (Hardcover, 2004 ed.)
Series: Medical Intelligence Unit
Expected to ship within 10 - 15 working days
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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.
General
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