Factor XIII Deficiency Associated With Noonan Syndrome

Noonan syndrome (NS) is an autosomal dominant disorder with multisystem involvement. NS can be associated with bleeding disorders due to defects in platelet function or coagulation factors and diagnosis can be challenging. Factor XIII (FXIII) deficiency is uncommon in patients with NS. We present a...

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Detalles Bibliográficos
Autores principales: Kharel, Zeni, Katel, Anjan, Neupane, Arun, Panday, Pradumna, Aryal, Madan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8076579/
https://www.ncbi.nlm.nih.gov/pubmed/33927952
http://dx.doi.org/10.7759/cureus.14150
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author Kharel, Zeni
Katel, Anjan
Neupane, Arun
Panday, Pradumna
Aryal, Madan
author_facet Kharel, Zeni
Katel, Anjan
Neupane, Arun
Panday, Pradumna
Aryal, Madan
author_sort Kharel, Zeni
collection PubMed
description Noonan syndrome (NS) is an autosomal dominant disorder with multisystem involvement. NS can be associated with bleeding disorders due to defects in platelet function or coagulation factors and diagnosis can be challenging. Factor XIII (FXIII) deficiency is uncommon in patients with NS. We present a case of NS who presented with bleeding in both thighs and was diagnosed to have deficiency in FXIII.
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spelling pubmed-80765792021-04-28 Factor XIII Deficiency Associated With Noonan Syndrome Kharel, Zeni Katel, Anjan Neupane, Arun Panday, Pradumna Aryal, Madan Cureus Genetics Noonan syndrome (NS) is an autosomal dominant disorder with multisystem involvement. NS can be associated with bleeding disorders due to defects in platelet function or coagulation factors and diagnosis can be challenging. Factor XIII (FXIII) deficiency is uncommon in patients with NS. We present a case of NS who presented with bleeding in both thighs and was diagnosed to have deficiency in FXIII. Cureus 2021-03-27 /pmc/articles/PMC8076579/ /pubmed/33927952 http://dx.doi.org/10.7759/cureus.14150 Text en Copyright © 2021, Kharel et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Kharel, Zeni
Katel, Anjan
Neupane, Arun
Panday, Pradumna
Aryal, Madan
Factor XIII Deficiency Associated With Noonan Syndrome
title Factor XIII Deficiency Associated With Noonan Syndrome
title_full Factor XIII Deficiency Associated With Noonan Syndrome
title_fullStr Factor XIII Deficiency Associated With Noonan Syndrome
title_full_unstemmed Factor XIII Deficiency Associated With Noonan Syndrome
title_short Factor XIII Deficiency Associated With Noonan Syndrome
title_sort factor xiii deficiency associated with noonan syndrome
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8076579/
https://www.ncbi.nlm.nih.gov/pubmed/33927952
http://dx.doi.org/10.7759/cureus.14150
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