Challenges in the diagnosis of Marfan syndrome

Medical Journal of Australia

Volumn 184, Issue 12, 2006, Pages 627-631

  Summers, Kim M ^a   West, Jennifer A ^a   Peterson, Madelyn M ^b   Stark, Denis ^c   McGill, James J ^d   West, Malcolm J ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b GRIFFITH UNIVERSITY   (Australia)

^c Mater Children's Hospital   (Canada)

^d Royal Children's Hospital   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; DNA; FIBRILLIN 1; PYRIDOXINE;

ADULT; AORTA DISSECTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 15; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; ECHOCARDIOGRAPHY; FAMILIAL DISEASE; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; GENETIC LINKAGE; HAPLOTYPE; HETEROZYGOTE; HOMOCYSTINURIA; HUMAN; LENS SUBLUXATION; LIFESTYLE; MALE; MARFAN SYNDROME; PHENOTYPE; SOCIAL ASPECT; TREATMENT PLANNING;

EID: 33745445203     PISSN: 0025729X     EISSN: None     Source Type: Journal    
DOI: 10.5694/j.1326-5377.2006.tb00419.x     Document Type: Article

References (5)

1. De Paepe A, Devereux RB, Dietz HC, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62: 417-426.
2. Collod-Béroud G, Le Bourdelles S, Adès L, et al. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat 2003; 22: 199-208.
3. Pyeritz RE. Marfan syndrome and other disorders of fibrillin. In: Rimoin DL, Connor JM, Pyeritz RE, editors. Emery and Rimoin's principles and practice of medical genetics. 3rd ed. New York: Churchill Livingstone, 1996: 1027-1066.
4. Roman MJ, Devereux RB, Kramer-Fox R, O'Loughlin J. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 1989; 64: 507-512.
5. Dietz HC, Loeys B, Carta L, Ramirez F. Recent progress towards a molecular understanding of Marfan syndrome. Am J Med Genet C Semin Med Genet 2005; 139: 4-9.