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.2011.48
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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：
--
作者：
Pyeritz, Reed E.
被怀疑患有马凡综合征的人通常被转介给医学遗传学家进行进一步的评估和诊断。然而，有许多情况与马凡氏综合症有相同的身体表现；因此，诊断和评估的方法对于这些人的适当长期随访至关重要。这一实践指南为如何对待这一干部个人提供了指导。
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.