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...

Descripción completa

Detalles Bibliográficos
Autores principales: Deibert, Emily, Crenshaw, Melissa, Miller, Michelle S.
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