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Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities

Ehlers-Danlos syndromes (EDS) are a heterogeneous group of genetically transmitted connective tissue disorders that directly affect collagen synthesis, with a broad range of symptoms. Case presentation: This study presents a clinical case of a Colombian woman with myopathic EDS and multiple comorbid...

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Autores principales: Fajardo-Jiménez, María José, Tejada-Moreno, Johanna A., Mejía-García, Alejandro, Villegas-Lanau, Andrés, Zapata-Builes, Wildeman, Restrepo, Jorge E., Cuartas, Gina P., Hernandez, Juan C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9689997/
https://www.ncbi.nlm.nih.gov/pubmed/36421793
http://dx.doi.org/10.3390/genes13112118
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author Fajardo-Jiménez, María José
Tejada-Moreno, Johanna A.
Mejía-García, Alejandro
Villegas-Lanau, Andrés
Zapata-Builes, Wildeman
Restrepo, Jorge E.
Cuartas, Gina P.
Hernandez, Juan C.
author_facet Fajardo-Jiménez, María José
Tejada-Moreno, Johanna A.
Mejía-García, Alejandro
Villegas-Lanau, Andrés
Zapata-Builes, Wildeman
Restrepo, Jorge E.
Cuartas, Gina P.
Hernandez, Juan C.
author_sort Fajardo-Jiménez, María José
collection PubMed
description Ehlers-Danlos syndromes (EDS) are a heterogeneous group of genetically transmitted connective tissue disorders that directly affect collagen synthesis, with a broad range of symptoms. Case presentation: This study presents a clinical case of a Colombian woman with myopathic EDS and multiple comorbidities taking 40 years of medical history to make the right diagnosis. This article also presents a review of the current literature on EDS, not only to remind the syndrome but also to help the clinician correctly identify symptoms of this diverse syndrome. Conclusion: A multidisciplinary approach to the diagnosis of the patient, including clinical and molecular analysis, and neuropsychological and psychological assessment, is important to improve the treatment choice and the outcome prediction of the patients.
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spelling pubmed-96899972022-11-25 Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities Fajardo-Jiménez, María José Tejada-Moreno, Johanna A. Mejía-García, Alejandro Villegas-Lanau, Andrés Zapata-Builes, Wildeman Restrepo, Jorge E. Cuartas, Gina P. Hernandez, Juan C. Genes (Basel) Case Report Ehlers-Danlos syndromes (EDS) are a heterogeneous group of genetically transmitted connective tissue disorders that directly affect collagen synthesis, with a broad range of symptoms. Case presentation: This study presents a clinical case of a Colombian woman with myopathic EDS and multiple comorbidities taking 40 years of medical history to make the right diagnosis. This article also presents a review of the current literature on EDS, not only to remind the syndrome but also to help the clinician correctly identify symptoms of this diverse syndrome. Conclusion: A multidisciplinary approach to the diagnosis of the patient, including clinical and molecular analysis, and neuropsychological and psychological assessment, is important to improve the treatment choice and the outcome prediction of the patients. MDPI 2022-11-15 /pmc/articles/PMC9689997/ /pubmed/36421793 http://dx.doi.org/10.3390/genes13112118 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Fajardo-Jiménez, María José
Tejada-Moreno, Johanna A.
Mejía-García, Alejandro
Villegas-Lanau, Andrés
Zapata-Builes, Wildeman
Restrepo, Jorge E.
Cuartas, Gina P.
Hernandez, Juan C.
Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities
title Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities
title_full Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities
title_fullStr Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities
title_full_unstemmed Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities
title_short Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities
title_sort ehlers-danlos: a literature review and case report in a colombian woman with multiple comorbidities
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9689997/
https://www.ncbi.nlm.nih.gov/pubmed/36421793
http://dx.doi.org/10.3390/genes13112118
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