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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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. |
format | Online Article Text |
id | pubmed-9689997 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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