Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome
نویسندگان
چکیده
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.
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ورودعنوان ژورنال:
دوره 2016 شماره
صفحات -
تاریخ انتشار 2016