EARLY ONSET MARFAN SYNDROME: ATYPICAL CLINICAL PRESENTATION OF TWO CASES

被引：5
|
作者：
Ozyurt, A. [1 ,2 ]
Baykan, A. [1 ]
Argun, M. [1 ]
Pamukcu, O. [1 ]
Halis, H. [3 ]
Korkut, S. [3 ]
Yuksel, Z. [4 ]
Gunes, T. [3 ]
Narin, N. [1 ]
机构：
[1] Erciyes Univ, Div Pediat Cardiol, Fac Med, TR-38039 Kayseri, Turkey
[2] Mersin Women Hlth & Children Hosp, Dept Pediat Cardiol, Mersin, Turkey
[3] Erciyes Univ, Fac Med, Div Neonatol, TR-38039 Kayseri, Turkey
[4] Mersin Women Hlth & Children Hosp, Dept Med Genet, Mersin, Turkey
来源：
BALKAN JOURNAL OF MEDICAL GENETICS | 2015年 / 18卷 / 01期
关键词：
Craniosynostosis; Early onset Marfan Syndrome (eoMFS); Heart failure; Neonatal Marfan Syndrome (MFS); Pediatric; Supraventricular tachycardia; MUTATIONS; GENE;
D O I：
10.1515/bjmg-2015-0008
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：71 / 76
页数：6
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