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SUSPECTED VASCULAR EHLERS DANLOS SYNDROME. CASE REPORT

Sospecha diagnóstica de síndrome de Ehlers Danlos tipo vascular: Reporte de un caso y revisión de literatura.

dc.contributoren-US
dc.contributores-ES
dc.creatorCevallos B, Carolina; Pontificia Universidad Católica de Chile.
dc.creatorVargas, Emilio; Departamento de Dermatología, Pontificia Universidad Católica de Chile
dc.creatorGonzález B, Sergio; Departamento de Anatomía Patológica, Pontificia Universidad Católica de Chile
dc.creatorMolgó, Montserrat; Departamento de Dermatología, Pontificia Universidad Católica de Chile
dc.date2018-07-25
dc.date.accessioned2019-11-11T18:26:17Z
dc.date.available2019-11-11T18:26:17Z
dc.identifierhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/6324
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/110609
dc.descriptionEhlers 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.en-US
dc.descriptionEhlers 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.es-ES
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dc.languagespa
dc.publisherRevista Médica de Chilees-ES
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dc.sourceRevista Médica de Chile; Vol. 146, núm. 8 (2018): AGOSTO 2018es-ES
dc.source0034-9887
dc.subjectConnective Tissue Diseases; Ehlers-Danlos Syndrome; Genetic Diseases, Inbornen-US
dc.subjectConnective Tissue Diseases; Ehlers-Danlos Syndrome; Genetic Diseases, Inbornes-ES
dc.titleSUSPECTED VASCULAR EHLERS DANLOS SYNDROME. CASE REPORTen-US
dc.titleSospecha diagnóstica de síndrome de Ehlers Danlos tipo vascular: Reporte de un caso y revisión de literatura.es-ES
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typees-ES


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