临床会诊：马方综合征。

Clinical consult: Marfan syndrome.

作者信息

Grimes Sarah J, Acheson Louise S, Matthews Anne L, Wiesner Georgia L

机构信息

Center for Human Genetics, Case Western Reserve University, University Hospitals of Cleveland, 11100 Euclid Avenue, LKS 1500, Cleveland, OH 44106, USA.

出版信息

Prim Care. 2004 Sep;31(3):739-42, xii. doi: 10.1016/j.pop.2004.04.005.

DOI:10.1016/j.pop.2004.04.005

PMID:15331256

Abstract

Marfan syndrome is a heritable disorder of connective tissue. This relatively common genetic condition affects approximately 2 to 3 per 10,000 individuals, without a particular gender, racial, geographic,or ethnic predilection. If unrecognized, patients with Marfan syndrome can have life-threatening cardiovascular complications. Identification and proper management of the disorder can improve the prognosis greatly, however, and extend the patient's life span. This article presents a case study of Marfan syndrome, describing disease characteristics and natural history, inheritance and genetics, diagnosis,differential diagnosis, and management.

摘要

马凡综合征是一种遗传性结缔组织疾病。这种相对常见的遗传病在每10000人中约有2至3人患病，无特定性别、种族、地域或民族倾向。如果未被识别，马凡综合征患者可能会出现危及生命的心血管并发症。然而，对该疾病的识别和妥善管理可大大改善预后，并延长患者的寿命。本文介绍了一例马凡综合征的病例研究，描述了疾病特征、自然病史、遗传方式和遗传学、诊断、鉴别诊断及管理。