Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities.
Ehlers-Danlos syndromes
case report
collagen
genetic diseases
neuropsychological assessment
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
15 11 2022
15 11 2022
Historique:
received:
13
09
2022
revised:
20
10
2022
accepted:
25
10
2022
entrez:
24
11
2022
pubmed:
25
11
2022
medline:
29
11
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36421793
pii: genes13112118
doi: 10.3390/genes13112118
pmc: PMC9689997
pii:
doi:
Types de publication
Review
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Bill & Melinda Gates Foundation
ID : INV-001894
Pays : United States
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