Toward understanding cause and pathogenesis of Towards Marfan syndrome
My task is to provide a foundation for the story Professor Peltonen and other speakers at this symposium will relate. My focus is the intellectual history that led to the recent discovery of the cause of the Marfan syndrome — an expedition that I always thought would lead to the pinnacle of any medical scientist’s career, preferably mine. Having found the cause, however, we now realize that it is a false peak, just a foothill on the way to the summit. The presentations and discussion at this meeting will indicate how much further we all need to climb to achieve the goal of total understanding of this complex disorder.
KeywordsOsteogenesis Imperfecta Elastic Fiber Marfan Syndrome Mitral Valve Prolapse Heritable Disorder
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- 1.Beighton P, de Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, Hall JG, Hollister DW, Horton W, McKusick VA, Opitz JM, Pope FM, Pyeritz RE, Rimoin DL, Sillience D, Spranger JW, Thompson E, Tsipouras P, Viljoen D, Winship I, Young I (1988) International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet 29: 581–594PubMedCrossRefGoogle Scholar
- 2.Beighton P (ed) (1993) McKusick’s heritable disorders of connective tissue, 5th edition, C. V. Mosby Company, St. LouisGoogle Scholar
- 4.Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, Stetten G, Meyers DA, Francomano CA (1991) Defects in the fibrillin gene cause the Marfan syndrome; linkage evidence and identification of a missense mutation. Nature 352: 337–339PubMedCrossRefGoogle Scholar
- 11.Maumenee IH (1981) The eye in the Marfan syndrome. Trans Am Opthalmol Soc 79: 684–733Google Scholar
- 14.McKusick VA (1956) Heritable Disorders of Connective Tissue. C. V. Mosby Company, St. LouisGoogle Scholar
- 15.Pyeritz RE (1993) The Marfan syndrome. In: Royce PM, Steinman B (eds). Connective tissue and its heritable disorders: Molecular, genetic and medical aspects. Wiley-Liss, New York, pp 437–468Google Scholar