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父源性原纤蛋白-1突变传递给一名患有新生儿马方综合征的患病儿子：早期识别的重要性。

Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition.

作者信息

Elshershari Huda, Harris Catharine

机构信息

1Department of Pediatrics,Medical College of Wisconsin,Milwaukee,Wisconsin,United States of America.

2Department of Child Health,University of Missouri Health System,Columbia,Missouri,United States of America.

出版信息

Cardiol Young. 2014 Aug;24(4):735-8. doi: 10.1017/S1047951113001029. Epub 2013 Aug 9.

DOI:10.1017/S1047951113001029
PMID:23930893
Abstract

We describe a case of neonatal Marfan syndrome diagnosed because of a family history, dysmorphic features, and cardiac abnormality. The echocardiogram showed aortic root dilatation. Molecular genetic studies showed a mutation in exon 31 of the FBN1 gene in the infant and father. The infant was treated with losartan, which significantly slowed the rate of enlargement of the aorta.

摘要

我们描述了一例因家族病史、畸形特征和心脏异常而被诊断出的新生儿马凡综合征病例。超声心动图显示主动脉根部扩张。分子遗传学研究表明，该婴儿及其父亲的原纤维蛋白1（FBN1）基因第31外显子存在突变。该婴儿接受了氯沙坦治疗，这显著减缓了主动脉扩张的速度。

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Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition.父源性原纤蛋白-1突变传递给一名患有新生儿马方综合征的患病儿子：早期识别的重要性。
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引用本文的文献

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Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature.新生儿马凡综合征：一例新型原纤维蛋白 1 突变的病例报告，并进行基因型-表型相关性分析及文献复习。
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A novel large in-frame deletion causes neonatal Marfan syndrome.一种新的大型框内缺失导致新生儿马凡综合征。
Cold Spring Harb Mol Case Stud. 2022 Oct 28;8(6). doi: 10.1101/mcs.a006213. Print 2022 Oct.
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A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team.
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Case Rep Pediatr. 2017;2017:8952428. doi: 10.1155/2017/8952428. Epub 2017 Jan 11.
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Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain.新生儿马方综合征：一例新生儿区域外存在遗传性剪接突变病例报告。
Mol Syndromol. 2016 Feb;6(6):281-6. doi: 10.1159/000443867. Epub 2016 Feb 2.
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