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...

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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:
Case Reports
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
Descripción
Sumario: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.

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