Sospecha diagnóstica de síndrome de Ehlers Danlos tipo vascular: reporte de un caso y revisión de literatura / Suspected vascular ehlers danlos syndrome: case report
Rev. méd. Chile
;
146(8): 938-942, ago. 2018. tab, graf
Article
in Spanish
| LILACS
| ID: biblio-978779
ABSTRACT
Ehlers Danlos Syndrome comprises a heterogeneous group of genetic disorders of the connective tissue, due to defects in collagen or its modifying enzymes. We report a 21 years old male presenting with translucent skin revealing the subcutaneous venous pattern. He had a thin face, large-appearing eyes, thin lips, thin nose, joint hypermotility and history of hip dysplasia. A vascular Ehlers Danlos Syndrome was suspected. However, the genetic study to confirm the diagnosis was not done.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Ehlers-Danlos Syndrome
Type of study:
Diagnostic study
Limits:
Adult
/
Humans
/
Male
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2018
Type:
Article
Affiliation country:
Chile
Institution/Affiliation country:
Pontificia Universidad Católica de Chile/CL
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