Marfan syndrome: Is early diagnosis useful?

Current Paediatrics

Volumn 8, Issue 2, 1998, Pages 121-125

  Stuart, G ^a   Wilson, D ^a  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 22644447684     PISSN: 09575839     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0957-5839(98)80132-2     Document Type: Conference Paper

References (20)

1. Marfan A B. Un cas de deformation congenitale des quatre membres, plus prononce aux extremetes, characterise par l'allongement des os avec un certain degre d'amincissement. Bull Mem Soc Hop (Paris) 1896; 13: 220-226.
2. Hollister D W, Godfrey M, Sakai L Y, Pyeritz R. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N Engl J Med 1990; 323: 148-153.
3. Dietz H, Cutting G R, Pyeritz R et al. Marfan syndrome caused by a recurrent missense mutation in the fibrillin gene. Nature 1991; 352: 337-339.
4. Savolainen A, Keto P, Hekali P et al. Aortic distensibility in children with the Marfan syndrome. Am J Cardiol 1992; 70: 691-693.
5. 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; 35: 331-336.
6. Dietz H C, Pyeritz R E, Hall B D et al. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3. Genomics 1991; 9: 355-361.
7. Aoyama T, Francke U, Gasner C, Furthmayr H. Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. Am J Med Genet 1995; 58(2): 169-176.
8. DePaepe A, Devereux R B, Dietz H, Hennekam R, Pyeritz R. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62: 417-426.
9. Koenigsberg M, Factor S, Cho S, Herskowitz A, Nitowsky H, Morecki R. Fetal Marfan syndrome: prenatal ultrasound diagnosis with pathological confirmation of skeletal and aortic lesions. Prenatal Diagnosis 1981; 1: 241-247.
10. Morse R P, Rockenmacher S, Pyeritz R et al. Diagnosis and management of infantile Marfan syndrome. Pediatr 1990; 86(6): 888-895.
11. Geva T, Sanders S P, Diogenes M S, Rockenmacher S, Van Praagh R. Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile Marfan syndrome. Am J Cardiol 1990; 65(18): 1230-1237.
12. Milewicz D M, Duvic M. Severe neonatal Marfan syndrome resulting from a de novo three base pair insertion into the fibrillin gene on chromosome 15. Am J Med Genet 1994; 54: 447-453.
13. Lipscomb K J, Clayton-Smith J, Harris R. Evolving phenotype of Marfan's syndrome. Arch Dis Child 1997; 76: 41-46.
14. Rust D. Babies, children and young people's research project. Farnborough: Marfan Association UK. 1993.
15. Anonymous. American Academy of Pediatrics: Committee on genetics. Health supervision for children with Marfan syndrome. Pediatr 1996; 98(5): 978-982.
16. 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; 286(15): 804-808.
17. Shores J, Berger K R, Murphy E A, Pyeritz R E. Progression of aortic dilatation and the benefit of long-term B-adrenergic blockade in Marfan's syndrome. N Engl J Med 1994; 330: 1335-1341.
18. Finkbohner R, Johnston D, Crawford S, Coselli J, Milewicz D M. Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation 1995; 91: 728-733.
19. Geva T, Hegesh J, Frand M. The clinical course and echocardiographic features of Marfan's syndrome in childhood. Am J Dis Child 1987; 141(11): 1179-1182.
20. Hoffman K J, Bernhardt B A, Pyeritz R. Marfan syndrome: neuropsychological aspects. Am J Med Genet 1988; 31: 331-338.