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[Suspected vascular ehlers danlos syndrome. Case report]

Authors :
Carolina, Cevallos B
Emilio, Vargas
Sergio, González B
Montserrat, Molgo
Source :
Revista medica de Chile. 146(8)
Publication Year :
2017

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.

Details

ISSN :
07176163
Volume :
146
Issue :
8
Database :
OpenAIRE
Journal :
Revista medica de Chile
Accession number :
edsair.pmid..........02b4aba558a947438336832b1de8b0b4