Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities.
Genes (Basel)
; 13(11)2022 11 15.
Article
en En
| MEDLINE
| ID: mdl-36421793
ABSTRACT
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.Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Ehlers-Danlos
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
País/Región como asunto:
America do sul
/
Colombia
Idioma:
En
Revista:
Genes (Basel)
Año:
2022
Tipo del documento:
Article
País de afiliación:
México