Isr Med Assoc J. 2008 Mar;10(3):186-8.Skeletal manifestations of Marfan syndrome.Avivi E, Arzi H, Paz L, Caspi I, Chechik A.Department of Orthopedics, Sheba Medical Center, Tel Hashomer, Israel. eranavv@gmail.com Marfan syndrome affects multiple organs and systems, many of which are musculoskeletal. The genetic basis of Marfan syndrome is related to chromosome 15 that encodes fibrillin-1 and 2. As with most genetic diseases the nature and location of mutations in the genes are only an approximate guide to the severity of the phenotype unless the same mutation has been seen in other members of the same family or in similar unrelated patients. The estimated prevalence of the syndrome is about 10 cases per 100,000 births. | |
PMID: 18494229 [PubMed - indexed for MEDLINE] | |
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MeSH Terms:Bone Diseases/diagnosis*, Bone Diseases/etiology, Bone Diseases/therapy*, Marfan Syndrome/complications*, Marfan Syndrome/radiography, Marfan Syndrome/therapy |
2 de abril de 2010
Manifestaciones esqueléticas del síndrome de Marfan
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