患有克莱夫斯特拉综合征的女孩的多发性冠状动脉微瘘
Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome.
作者信息
Vargiami Euthymia, Ververi Athina, Al-Mutawa Hamda, Gioula Georgia, Gerou Spyridon, Rouvalis Fotios, Kambouris Marios, Zafeiriou Dimitrios I
机构信息
1st Department of Pediatrics, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece.
Shafallah Medical Genetics Center, Doha, Qatar.
出版信息
Case Rep Genet. 2016;2016:3056053. doi: 10.1155/2016/3056053. Epub 2016 Apr 30.
Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions or EHMT1 mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She exhibits a rare and complex cardiopathy, encompassing multiple coronary artery microfistulas, VSD/ASD, and PFO.
克莱夫斯特拉综合征的特征为肌张力减退、发育迟缓、畸形特征、先天性心脏缺陷等。它由9q34.3微缺失或EHMT1突变引起。本文描述了一名20个月大患有克莱夫斯特拉综合征的女孩，其病因是新发的亚末端缺失。她患有罕见且复杂的心脏病，包括多处冠状动脉微瘘、室间隔缺损/房间隔缺损和卵圆孔未闭。
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