Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome
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 e...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2016/3056053 |
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| author | Euthymia Vargiami Athina Ververi Hamda Al-Mutawa Georgia Gioula Spyridon Gerou Fotios Rouvalis Marios Kambouris Dimitrios I. Zafeiriou |
| author_facet | Euthymia Vargiami Athina Ververi Hamda Al-Mutawa Georgia Gioula Spyridon Gerou Fotios Rouvalis Marios Kambouris Dimitrios I. Zafeiriou |
| author_sort | Euthymia Vargiami |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-bbfc8d5636fc46e78ea1952c54b0467c |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-bbfc8d5636fc46e78ea1952c54b0467c2025-02-03T06:01:43ZengWileyCase Reports in Genetics2090-65442090-65522016-01-01201610.1155/2016/30560533056053Multiple Coronary Artery Microfistulas in a Girl with Kleefstra SyndromeEuthymia Vargiami0Athina Ververi1Hamda Al-Mutawa2Georgia Gioula3Spyridon Gerou4Fotios Rouvalis5Marios Kambouris6Dimitrios I. Zafeiriou71st Department of Pediatrics, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece1st Department of Pediatrics, Aristotle University of Thessaloniki, 54642 Thessaloniki, GreeceShafallah Medical Genetics Center, Doha, Qatar2nd Department of Microbiology, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece1st Department of Pediatrics, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece1st Department of Pediatrics, Aristotle University of Thessaloniki, 54642 Thessaloniki, GreecePathology-Genetics, Sidra Medical & Research Center, Doha, Qatar1st Department of Pediatrics, Aristotle University of Thessaloniki, 54642 Thessaloniki, GreeceKleefstra 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.http://dx.doi.org/10.1155/2016/3056053 |
| spellingShingle | Euthymia Vargiami Athina Ververi Hamda Al-Mutawa Georgia Gioula Spyridon Gerou Fotios Rouvalis Marios Kambouris Dimitrios I. Zafeiriou Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome Case Reports in Genetics |
| title | Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome |
| title_full | Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome |
| title_fullStr | Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome |
| title_full_unstemmed | Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome |
| title_short | Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome |
| title_sort | multiple coronary artery microfistulas in a girl with kleefstra syndrome |
| url | http://dx.doi.org/10.1155/2016/3056053 |
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