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Acta Médica del Centro

ISSN 1995-9494 (Electronic)
Revista del Hospital Clínico Quirúrgico "Arnaldo Milián Castro"
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2015, Number 4

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Acta Med Cent 2015; 9 (4)

Síndrome de Marfan. Reporte de un paciente

Santos PLA, González FE, Milián HCG
Full text How to cite this article

Language: Spanish
References: 11
Page: 46-51
PDF size: 200.22 Kb.


Key words:

Marfan syndrome, genetic diseases inborn.

ABSTRACT

Marfan syndrome is a congenital hereditary disease (sporadic in 15-30% of cases) of connective tissue, dominant autosomal with complete penetrance, with prevalence estimated at one per 5 000 people and incidence of one per 10 000 births without racial or sex predominance. A patient with sporadic Marfan syndrome was diagnosed after being benefited with a renal transplantation. Review of the clinical manifestations syndrome of Marfan is done and criteria for diagnosis.


REFERENCES

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  2. Aalberts JJ, Schuurman AG, Pals G, Hamel BJ, Bosman G, Barge-Schaapveld DQ, et al. Recurrent and founder mutations in the Netherlands: extensive clinical variability y in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation. Neth Heart J [Internet]. 2010 [citado 12 Mar 2014];18(2):85-89. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2828568/

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  4. Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC. Angiotensin II blockade and aortic-root dilation in Marfan’s syndrome. N Engl J Med [Internet]. 2008 [citado 2 Mar 2014];358:2787-2795. Disponible en: http://www.nejm.org/doi/full/10.1056/NEJMoa0706585

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  9. De Backer J. Cardiovascular characteristics in Marfan syndrome and their relation to the genotype. Verh K Acad Geneeskd Belg [Internet]. 2009 [citado 29 Abr 2014];94(4):71(6):335-71. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/20232788

  10. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genetics [Internet]. 1996 [citado 12 Mar 2014];62(4):417-26. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/8723076

  11. Yuan SM, Jing H. Marfan's syndrome: an overview. Sao Paulo Med J [Internet]. 2010 [citado 12 Mar 2014];128(6):360-694. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/21308160




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Acta Med Cent. 2015;9