Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1994 Jan;31(1):51–54. doi: 10.1136/jmg.31.1.51

Ascertainment and severity of Marfan syndrome in a Scottish population.

J R Gray 1, A B Bridges 1, M J Faed 1, T Pringle 1, P Baines 1, J Dean 1, M Boxer 1
PMCID: PMC1049599  PMID: 8151638

Abstract

This study in north east Scotland has shown that Marfan syndrome has a minimal birth incidence of 1:9802 live births, a minimal prevalence of 1:14217, and that 8/30 (26.7%) of cases in our series are new mutations. The calculated mutation rate is 15 +/- 6.7 x 10(-6) and there is evidence of reduced reproductive fitness.

Full text

PDF
51

Selected References

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

  1. BLANK C. E. Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases. Ann Hum Genet. 1960 May;24:151–164. doi: 10.1111/j.1469-1809.1959.tb01728.x. [DOI] [PubMed] [Google Scholar]
  2. 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]
  3. Devereux R. B., Kramer-Fox R., Kligfield P. Mitral valve prolapse: causes, clinical manifestations, and management. Ann Intern Med. 1989 Aug 15;111(4):305–317. doi: 10.7326/0003-4819-111-4-305. [DOI] [PubMed] [Google Scholar]
  4. Huson S. M., Compston D. A., Clark P., Harper P. S. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet. 1989 Nov;26(11):704–711. doi: 10.1136/jmg.26.11.704. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. LYNAS M. A. Marfan's syndrome in Northern Ireland; an account of thirteen families. Ann Hum Genet. 1958 Jul;22(4):289–309. doi: 10.1111/j.1469-1809.1958.tb01423.x. [DOI] [PubMed] [Google Scholar]
  6. Murdoch J. L., Walker B. A., McKusick V. A. Parental age effects on the occurrence of new mutations for the Marfan syndrome. Ann Hum Genet. 1972 Mar;35(3):331–336. doi: 10.1111/j.1469-1809.1957.tb01406.x. [DOI] [PubMed] [Google Scholar]
  7. 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]
  8. Pyeritz R. E., Murphy E. A., McKusick V. A. Clinical variability in the Marfan syndrome(s). Birth Defects Orig Artic Ser. 1979;15(5B):155–178. [PubMed] [Google Scholar]
  9. Pyeritz R. E. The Marfan syndrome. Am Fam Physician. 1986 Dec;34(6):83–94. [PubMed] [Google Scholar]
  10. 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]
  11. Sampson J. R., Scahill S. J., Stephenson J. B., Mann L., Connor J. M. Genetic aspects of tuberous sclerosis in the west of Scotland. J Med Genet. 1989 Jan;26(1):28–31. doi: 10.1136/jmg.26.1.28. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Sisk H. E., Zahka K. G., Pyeritz R. E. The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age. Am J Cardiol. 1983 Aug;52(3):353–358. doi: 10.1016/0002-9149(83)90138-8. [DOI] [PubMed] [Google Scholar]
  13. Tanaka K. A new simplified method for estimating relative fitness in man. Jinrui Idengaku Zasshi. 1974 Dec;19(3):195–202. [PubMed] [Google Scholar]
  14. Tayel S., Kurczynski T. W., Levine M., Brookfield E., Ehrlich R., Hennessy J. R., DeBeukelaer M. M. Marfanoid children. Etiologic heterogeneity and cardiac findings. Am J Dis Child. 1991 Jan;145(1):90–93. doi: 10.1001/archpedi.1991.02160010096024. [DOI] [PubMed] [Google Scholar]

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

RESOURCES