Evaluation of the adolescent or adult with some features of Marfan syndrome
Evaluation of the adolescent or adult with some features of Marfan syndrome
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DOI：
10.1038/gim.2012.74
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发表时间：
2012-01-01
影响因子：
8.8
通讯作者：
Pyeritz, Reed E.
中科院分区：
文献类型：
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作者：
Pyeritz, Reed E.
被怀疑患有马凡氏综合征的人通常会被转介到医学遗传学家进行进一步的评估和诊断。然而，有一些条件，共享的身体表现与马凡氏综合征;因此，诊断和评估的方法是至关重要的，这些人的适当的长期随访。本实践指南提供了对这类人员的方法指导。
Individuals who are suspected of having Marfan syndrome are often referred to a medical geneticist for further evaluation and diagnosis. However, there are a number of conditions that share physical manifestations with those of Marfan syndrome; therefore, an approach to diagnosis and evaluation is crucial to the proper long-term follow-up of these individuals. This practice guideline provides guidance for the approach to this cadre of individuals.