title: Ascertainment and severity of Marfan syndrome in a Scottish population.
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.
authors.affiliation: Department of Pathology, Ninewells Hospital and Medical School, Dundee, UK.
authors.forename: J R
authors.initials: JR
authors.lastname: Gray
authors.forename: A B
authors.initials: AB
authors.lastname: Bridges
authors.forename: M J
authors.initials: MJ
authors.lastname: Faed
authors.forename: T
authors.initials: T
authors.lastname: Pringle
authors.forename: P
authors.initials: P
authors.lastname: Baines
authors.forename: J
authors.initials: J
authors.lastname: Dean
authors.forename: M
authors.initials: M
authors.lastname: Boxer
mesh_terms: D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000473:pathology; D002319:Cardiovascular System / Q000473:pathology; D005260:Female; D006801:Humans; D015994:Incidence; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D015995:Prevalence; D012606:Scotland