Clinical consult: Marfan syndrome

Primary Care - Clinics in Office Practice

Volumn 31, Issue 3, 2004, Pages 739-742

  Grimes, Sarah J ^a   Acheson, Louise S ^a   Matthews, Anne L ^a   Wiesner, Georgia L ^a  

^a UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN 1;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONSULTATION; DIFFERENTIAL DIAGNOSIS; FAMILY HISTORY; GENE FUNCTION; GENE MUTATION; GENETIC DISORDER; HUMAN; MALE; MARFAN SYNDROME; PHYSICAL EXAMINATION; PRIMARY MEDICAL CARE; PRIORITY JOURNAL;

EID: 4344684876     PISSN: 00954543     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pop.2004.04.005     Document Type: Review

References (10)

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2. Cross H.E., Jensen A.D. Ocular manifestations in the Marfan syndrome and homocystinuria. Am J Ophthalmol. 75:1973;405-420
3. Dietz H.C., Cutting G.R., Pyeritz R.E., et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 352:1991;337-339
4. Kainulainen K., Pulkkinen L., Savolainen A., Kaitila I., Peltonen L. Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med. 323:1990;935-939
5. 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. 9:1991;355-361
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7. De Paepe A., Devereux R.B., Dietz H.C., Hennekam R.C., Pyeritz R.E. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 62:1996;417-426
8. Shores J., Berger K.R., Murphy E.A., Pyeritz R.E. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. N Engl J Med. 330:1994;1335-1341
9. Baumgartner W.A., Cameron D.E., Redmond J.M., Greene P.S., Gott V.L. Operative management of Marfan syndrome: the Johns Hopkins experience. Ann Thorac Surg. 67:1999;1859-1860
10. National Marfan Foundation Inc. Marfan syndrome: physical education and activity guidelines. 1995;National Marfan Foundation Inc, Port Washington