A patient with Phelan‐McDermid syndrome and dilation of the great vessels
We present a patient with Phelan‐McDermid syndrome, a rare neurodevelopmental disorder caused by a 22q13 deletion, with the previously undescribed finding of progressive dilation of the great arteries. While congenital heart defects have been identified in patients previously, dilation of the great...
Autores principales: | , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452459/ https://www.ncbi.nlm.nih.gov/pubmed/30997046 http://dx.doi.org/10.1002/ccr3.2003 |
_version_ | 1783409292862291968 |
---|---|
author | Deibert, Emily Crenshaw, Melissa Miller, Michelle S. |
author_facet | Deibert, Emily Crenshaw, Melissa Miller, Michelle S. |
author_sort | Deibert, Emily |
collection | PubMed |
description | We present a patient with Phelan‐McDermid syndrome, a rare neurodevelopmental disorder caused by a 22q13 deletion, with the previously undescribed finding of progressive dilation of the great arteries. While congenital heart defects have been identified in patients previously, dilation of the great arteries has not been described to our knowledge. |
format | Online Article Text |
id | pubmed-6452459 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-64524592019-04-17 A patient with Phelan‐McDermid syndrome and dilation of the great vessels Deibert, Emily Crenshaw, Melissa Miller, Michelle S. Clin Case Rep Case Reports We present a patient with Phelan‐McDermid syndrome, a rare neurodevelopmental disorder caused by a 22q13 deletion, with the previously undescribed finding of progressive dilation of the great arteries. While congenital heart defects have been identified in patients previously, dilation of the great arteries has not been described to our knowledge. John Wiley and Sons Inc. 2019-02-17 /pmc/articles/PMC6452459/ /pubmed/30997046 http://dx.doi.org/10.1002/ccr3.2003 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Case Reports Deibert, Emily Crenshaw, Melissa Miller, Michelle S. A patient with Phelan‐McDermid syndrome and dilation of the great vessels |
title | A patient with Phelan‐McDermid syndrome and dilation of the great vessels |
title_full | A patient with Phelan‐McDermid syndrome and dilation of the great vessels |
title_fullStr | A patient with Phelan‐McDermid syndrome and dilation of the great vessels |
title_full_unstemmed | A patient with Phelan‐McDermid syndrome and dilation of the great vessels |
title_short | A patient with Phelan‐McDermid syndrome and dilation of the great vessels |
title_sort | patient with phelan‐mcdermid syndrome and dilation of the great vessels |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452459/ https://www.ncbi.nlm.nih.gov/pubmed/30997046 http://dx.doi.org/10.1002/ccr3.2003 |
work_keys_str_mv | AT deibertemily apatientwithphelanmcdermidsyndromeanddilationofthegreatvessels AT crenshawmelissa apatientwithphelanmcdermidsyndromeanddilationofthegreatvessels AT millermichelles apatientwithphelanmcdermidsyndromeanddilationofthegreatvessels AT deibertemily patientwithphelanmcdermidsyndromeanddilationofthegreatvessels AT crenshawmelissa patientwithphelanmcdermidsyndromeanddilationofthegreatvessels AT millermichelles patientwithphelanmcdermidsyndromeanddilationofthegreatvessels |