Abstract:
:Marfan syndrome (MFS) is an autosomal dominant disorder of the fibrous connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Although clinical and genetic analyses have been performed in various populations, there have been few studies in Korea. The aim of this study was to investigate the clinical characteristics and genetic background of Korean patients with MFS. In 39 Korean patients with MFS who met the Ghent criteria, the most common clinical finding was aortic dilatation and/or dissection (94.9%), whereas only 35.9% of patients had ectopia lentis. The majority of MFS patients had fewer than four of the skeletal findings required to fulfill the major skeletal Ghent criterion for MFS. Only 21% of Korean patients had major skeletal abnormalities and most cases showed only minor skeletal involvement. FBN1 gene mutations were detected in 35 out of 39 patients (89.7%), which is similar to rates presented in the previous reports. These results suggest that some clinical features in Korean patients with MFS differed from those reported in Western MFS patients.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Yoo EH,Woo H,Ki CS,Lee HJ,Kim DK,Kang IS,Park P,Sung K,Lee CS,Chung TY,Moon JR,Han H,Lee ST,Kim JWdoi
10.1111/j.1399-0004.2009.01287.xsubject
Has Abstractpub_date
2010-02-01 00:00:00pages
177-82issue
2eissn
0009-9163issn
1399-0004pii
CGE1287journal_volume
77pub_type
杂志文章abstract::Multiple congenital malformations in a young girl with bilateral conductive hearing loss are described. Facial dysmorphic features include prominent supraorbital ridges, facial hypoplasia, facial asymmetry, downward-slanting palpebral fissures, high prominent nasal bridge with bifid nasal tip and a small lower jaw, an...
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pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Clinical genetics
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pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:1993-08-01 00:00:00
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pub_type: 杂志文章,评审
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