Ascertainment and severity of Marfan syndrome in a Scottish population

J Med Genet. 1994 Jan;31(1):51-4. doi: 10.1136/jmg.31.1.51.

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.

MeSH terms

  • Adolescent
  • Adult
  • Bone and Bones / pathology
  • Cardiovascular System / pathology
  • Female
  • Humans
  • Incidence
  • Male
  • Marfan Syndrome / diagnosis*
  • Marfan Syndrome / etiology
  • Marfan Syndrome / genetics
  • Marfan Syndrome / physiopathology
  • Mutation
  • Prevalence
  • Scotland