María José Fajardo

Dr. María José Fajardo


Research Focus & Metrics

Academic Career Length

5Years (2022-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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15 November 2022 in Genes
Verified
Journal Article
Open access
PDF file
MFMaría José Fajardo
María José Fajardo
JMJohanna Alexandra Tejada Moreno
Johanna Alexandra Tejada Moreno
AMAlejandro Mejía-García
Alejandro Mejía-García
AVAndrés Villegas-Lanau
Andrés Villegas-Lanau
Wildeman ZapataWildeman Zapata
Wildeman Zapata
JHJuan C. Hernandez
Juan C. Hernandez
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.