Abstract
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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APA
Vargiami, E., Ververi, A., Al-Mutawa, H., Gioula, G., Gerou, S., Rouvalis, F., … Zafeiriou, D. I. (2016). Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome. Case Reports in Genetics, 2016, 1–5. https://doi.org/10.1155/2016/3056053
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