Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1996 May;33(5):403–408. doi: 10.1136/jmg.33.5.403

Marfan syndrome.

J R Gray 1, S J Davies 1
PMCID: PMC1050611  PMID: 8733052

Full text

PDF

Images in this article

403Image
on p.403
403Image
on p.403
404Image
on p.404
404Image
on p.404

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Beighton P., de Paepe A., Danks D., Finidori G., Gedde-Dahl T., Goodman R., Hall J. G., Hollister D. W., Horton W., McKusick V. A. International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. Am J Med Genet. 1988 Mar;29(3):581–594. doi: 10.1002/ajmg.1320290316. [DOI] [PubMed] [Google Scholar]
  2. Bridges A. B., Faed M., Boxer M., Gray J. R., Bundy C., Murray A. Marfan syndrome in a large family: response of family members to a screening programme. J Med Genet. 1992 Feb;29(2):81–85. doi: 10.1136/jmg.29.2.81. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Cohen P. R., Schneiderman P. Clinical manifestations of the Marfan syndrome. Int J Dermatol. 1989 Jun;28(5):291–299. doi: 10.1111/j.1365-4362.1989.tb01347.x. [DOI] [PubMed] [Google Scholar]
  4. Collod G., Babron M. C., Jondeau G., Coulon M., Weissenbach J., Dubourg O., Bourdarias J. P., Bonaïti-Pellié C., Junien C., Boileau C. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet. 1994 Nov;8(3):264–268. doi: 10.1038/ng1194-264. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Dalgleish R., Hawkins J. R., Keston M. Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family. J Med Genet. 1987 Mar;24(3):148–151. doi: 10.1136/jmg.24.3.148. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Dietz H. C., Cutting G. R., Pyeritz R. E., Maslen C. L., Sakai L. Y., Corson G. M., Puffenberger E. G., Hamosh A., Nanthakumar E. J., Curristin S. M. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991 Jul 25;352(6333):337–339. doi: 10.1038/352337a0. [DOI] [PubMed] [Google Scholar]
  7. Dietz H. C., McIntosh I., Sakai L. Y., Corson G. M., Chalberg S. C., Pyeritz R. E., Francomano C. A. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics. 1993 Aug;17(2):468–475. doi: 10.1006/geno.1993.1349. [DOI] [PubMed] [Google Scholar]
  8. Gordon A. M. Abraham Lincoln, der berühmte Fall eines Marfan-Syndroms. Dtsch Med J. 1967 May 5;18(9):256–260. [PubMed] [Google Scholar]
  9. Gott V. L., Pyeritz R. E., Magovern G. J., Jr, Cameron D. E., McKusick V. A. Surgical treatment of aneurysms of the ascending aorta in the Marfan syndrome. Results of composite-graft repair in 50 patients. N Engl J Med. 1986 Apr 24;314(17):1070–1074. doi: 10.1056/NEJM198604243141702. [DOI] [PubMed] [Google Scholar]
  10. Gray J. R., Bridges A. B., Faed M. J., Pringle T., Baines P., Dean J., Boxer M. Ascertainment and severity of Marfan syndrome in a Scottish population. J Med Genet. 1994 Jan;31(1):51–54. doi: 10.1136/jmg.31.1.51. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. HAMWI G. J. Marfan's syndrome (arachnodactyly). Am J Med. 1951 Aug;11(2):261–266. doi: 10.1016/0002-9343(51)90161-1. [DOI] [PubMed] [Google Scholar]
  12. Hall J. R., Pyeritz R. E., Dudgeon D. L., Haller J. A., Jr Pneumothorax in the Marfan syndrome: prevalence and therapy. Ann Thorac Surg. 1984 Jun;37(6):500–504. doi: 10.1016/s0003-4975(10)61142-3. [DOI] [PubMed] [Google Scholar]
  13. Hewett D., Lynch J., Child A., Firth H., Sykes B. Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome. Am J Hum Genet. 1994 Sep;55(3):447–452. [PMC free article] [PubMed] [Google Scholar]
  14. Hollister D. W., Godfrey M., Sakai L. Y., Pyeritz R. E. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N Engl J Med. 1990 Jul 19;323(3):152–159. doi: 10.1056/NEJM199007193230303. [DOI] [PubMed] [Google Scholar]
  15. Hwa J., Richards J. G., Huang H., McKay D., Pressley L., Hughes C. F., Jeremy R. W. The natural history of aortic dilatation in Marfan syndrome. Med J Aust. 1993 Apr 19;158(8):558–562. doi: 10.5694/j.1326-5377.1993.tb121876.x. [DOI] [PubMed] [Google Scholar]
  16. Kainulainen K., Karttunen L., Puhakka L., Sakai L., Peltonen L. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet. 1994 Jan;6(1):64–69. doi: 10.1038/ng0194-64. [DOI] [PubMed] [Google Scholar]
  17. Kainulainen K., Pulkkinen L., Savolainen A., Kaitila I., Peltonen L. Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med. 1990 Oct 4;323(14):935–939. doi: 10.1056/NEJM199010043231402. [DOI] [PubMed] [Google Scholar]
  18. Lee B., Godfrey M., Vitale E., Hori H., Mattei M. G., Sarfarazi M., Tsipouras P., Ramirez F., Hollister D. W. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature. 1991 Jul 25;352(6333):330–334. doi: 10.1038/352330a0. [DOI] [PubMed] [Google Scholar]
  19. Lima S. D., Lima J. A., Pyeritz R. E., Weiss J. L. Relation of mitral valve prolapse to left ventricular size in Marfan's syndrome. Am J Cardiol. 1985 Mar 1;55(6):739–743. doi: 10.1016/0002-9149(85)90148-1. [DOI] [PubMed] [Google Scholar]
  20. Milewicz D. M., Pyeritz R. E., Crawford E. S., Byers P. H. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J Clin Invest. 1992 Jan;89(1):79–86. doi: 10.1172/JCI115589. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Murdoch J. L., Walker B. A., Halpern B. L., Kuzma J. W., McKusick V. A. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med. 1972 Apr 13;286(15):804–808. doi: 10.1056/NEJM197204132861502. [DOI] [PubMed] [Google Scholar]
  22. Pennes D. R., Braunstein E. M., Shirazi K. K. Carpal ligamentous laxity with bilateral perilunate dislocation in Marfan syndrome. Skeletal Radiol. 1985;13(1):62–64. doi: 10.1007/BF00349097. [DOI] [PubMed] [Google Scholar]
  23. Pinkus H., Keech M. K., Mehregan A. H. Histopathology of striae distensae, with special reference to striae and wound healing in the Marfan syndrome. J Invest Dermatol. 1966 Mar;46(3):283–292. doi: 10.1038/jid.1966.43. [DOI] [PubMed] [Google Scholar]
  24. Pyeritz R. E., Fishman E. K., Bernhardt B. A., Siegelman S. S. Dural ectasia is a common feature of the Marfan syndrome. Am J Hum Genet. 1988 Nov;43(5):726–732. [PMC free article] [PubMed] [Google Scholar]
  25. Pyeritz R. E., McKusick V. A. The Marfan syndrome: diagnosis and management. N Engl J Med. 1979 Apr 5;300(14):772–777. doi: 10.1056/NEJM197904053001406. [DOI] [PubMed] [Google Scholar]
  26. Pyeritz R. E., Murphy E. A., Lin S. J., Rosell E. M. Growth and anthropometrics in the Marfan syndrome. Prog Clin Biol Res. 1985;200:355–366. [PubMed] [Google Scholar]
  27. Pyeritz R. E., Wappel M. A. Mitral valve dysfunction in the Marfan syndrome. Clinical and echocardiographic study of prevalence and natural history. Am J Med. 1983 May;74(5):797–807. doi: 10.1016/0002-9343(83)91070-7. [DOI] [PubMed] [Google Scholar]
  28. Roman M. J., Devereux R. B., Kramer-Fox R., O'Loughlin J. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol. 1989 Sep 1;64(8):507–512. doi: 10.1016/0002-9149(89)90430-x. [DOI] [PubMed] [Google Scholar]
  29. Sakai L. Y., Keene D. R., Engvall E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol. 1986 Dec;103(6 Pt 1):2499–2509. doi: 10.1083/jcb.103.6.2499. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Sakai L. Y., Keene D. R., Glanville R. W., Bächinger H. P. Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils. J Biol Chem. 1991 Aug 5;266(22):14763–14770. [PubMed] [Google Scholar]
  31. Shores J., Berger K. R., Murphy E. A., Pyeritz R. E. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. N Engl J Med. 1994 May 12;330(19):1335–1341. doi: 10.1056/NEJM199405123301902. [DOI] [PubMed] [Google Scholar]
  32. Silverman D. I., Burton K. J., Gray J., Bosner M. S., Kouchoukos N. T., Roman M. J., Boxer M., Devereux R. B., Tsipouras P. Life expectancy in the Marfan syndrome. Am J Cardiol. 1995 Jan 15;75(2):157–160. doi: 10.1016/s0002-9149(00)80066-1. [DOI] [PubMed] [Google Scholar]
  33. Tsipouras P., Børresen A. L., Bamforth S., Harper P. S., Berg K. Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene. Clin Genet. 1986 Nov;30(5):428–432. [PubMed] [Google Scholar]
  34. Tsipouras P., Del Mastro R., Sarfarazi M., Lee B., Vitale E., Child A. H., Godfrey M., Devereux R. B., Hewett D., Steinmann B. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med. 1992 Apr 2;326(14):905–909. doi: 10.1056/NEJM199204023261401. [DOI] [PubMed] [Google Scholar]
  35. Williams E. Rare Cases, with Practical Remarks. Trans Am Ophthalmol Soc. 1875;2:291–301. [PMC free article] [PubMed] [Google Scholar]
  36. Yeh H., Chow M., Abrams W. R., Fan J., Foster J., Mitchell H., Muenke M., Rosenbloom J. Structure of the human gene encoding the associated microfibrillar protein (MFAP1) and localization to chromosome 15q15-q21. Genomics. 1994 Sep 15;23(2):443–449. doi: 10.1006/geno.1994.1521. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES