Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

Joint Authors

Ververi, Athina
Al-Mutawa, Hamda
Gioula, Georgia
Gerou, Spyridon
Rouvalis, Fotios
Kambouris, Marios
Vasiliadis, Konstantinos
Zafeiriou, D. I.

Source

Case Reports in Genetics

Issue

Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-5, 5 p.

Publisher

Hindawi Publishing Corporation

Publication Date

2016-04-30

Country of Publication

Egypt

No. of Pages

5

Main Subjects

Biology

Abstract EN

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.

American Psychological Association (APA)

Vasiliadis, Konstantinos& Ververi, Athina& Al-Mutawa, Hamda& Gioula, Georgia& Gerou, Spyridon& Rouvalis, Fotios…[et al.]. 2016. Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome. Case Reports in Genetics،Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100754

Modern Language Association (MLA)

Vasiliadis, Konstantinos…[et al.]. Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome. Case Reports in Genetics No. 2016 (2016), pp.1-5.
https://search.emarefa.net/detail/BIM-1100754

American Medical Association (AMA)

Vasiliadis, Konstantinos& Ververi, Athina& Al-Mutawa, Hamda& Gioula, Georgia& Gerou, Spyridon& Rouvalis, Fotios…[et al.]. Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome. Case Reports in Genetics. 2016. Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100754

Data Type

Journal Articles

Language

English

Notes

Includes bibliographical references

Record ID

BIM-1100754