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[Suspected vascular ehlers danlos syndrome. Case report]
- 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