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MARFAN'S SYNDROME AND THE WEILL-MARCHESANI SYNDROME IN THE S. FAMILY

1959; American College of Physicians; Volume: 51; Issue: 5 Linguagem: Inglês

10.7326/0003-4819-51-5-1049

1539-3704

Dorrance Bowers,

History of Medical Practice

Article1 November 1959MARFAN'S SYNDROME AND THE WEILL-MARCHESANI SYNDROME IN THE S. FAMILYDORRANCE BOWERS, M.D., M.S. (Med.), F.R.C.P. (C)DORRANCE BOWERS, M.D., M.S. (Med.), F.R.C.P. (C)Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-51-5-1049 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Excerpt". . . A large number of abnormal conditions are known to be inherited in man. . . . Few, if any . . . are determined by a known genetic mechanism in a known way. . . . Such meagre information as we have comes from the efforts of people who found themselves interested in the subject and seized what small opportunity they could to make observations which they thought would be of some value."—Boyd1INTRODUCTIONAbout the middle of the nineteenth century a young couple emigrated to Canada from Germany.2They brought with them a curse which, to...Bibliography1. Boyd WC: Genetics and the races of man: an introduction to modern physical anthropology, 1st Ed., 1950, Little, Brown and Co., Boston, p. 291. Google Scholar2. Rich W, Powasson, Ont.: Personal communication, July 3, 1957. Google Scholar3. Marfan AB: Un cas de déformation congénitale des quarte membres plus prononcée aux extrémités charactérisée par l'allongement des os avec un certain degré d'amincissement, Bull. et mém. Soc. méd. d. hôp. de Paris 13: 220, 1896. Google Scholar4. Achard C: Arachnodactyly, Bull. et mém. Soc. méd. d. hôp. de Paris 19: 834, 1902, cited by Rados.5 Google Scholar5. 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PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByMissense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndromeLTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrixUtility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndromeMarfan syndrome associated with bicuspid aortic valve, premature aging, and primary hypogonadismFormes frustes of Marfan's syndrome presenting with severe aortic regurgitation. 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