Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome
Authors:
Open Access
- 30 April 2016
- journal article
- case report
- Published by Hindawi Limited in Case Reports in Genetics
- Vol. 2016, 1-5
Abstract
Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions orEHMT1mutations. 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.Keywords
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