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早发型马方综合征:两例非典型临床表现

Early onset marfan syndrome: Atypical clinical presentation of two cases.

作者信息

Ozyurt A, Baykan A, Argun M, Pamukcu O, Halis H, Korkut S, Yuksel Z, Gunes T, Narin N

机构信息

Department of Pediatric Cardiology, Mersin Women Health And Children Hospital, Mersin, Turkey.

Division of Pediatric Cardiology, Erciyes University Faculty of Medicine, Kayseri, Turkey.

出版信息

Balkan J Med Genet. 2015 Dec 30;18(1):71-6. doi: 10.1515/bjmg-2015-0008. eCollection 2015 Jun.

Abstract

Early onset Marfan Syndrome (eoMFS) is a rare, severe form of Marfan Syndrome (MFS). The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

摘要

早发型马凡综合征(eoMFS)是马凡综合征(MFS)的一种罕见的严重形式。该疾病预后较差,大多数患者在新生儿期就对心力衰竭治疗产生抵抗。本报告介绍了两例早发型马凡综合征病例,其临床特征相似,均在新生儿期被诊断出,并因心血管系统受累相关并发症而过早死亡。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fce/4768828/7a4c4495080d/bjmg-18-01-71f1.jpg

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