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Sospecha diagnóstica de síndrome de Ehlers Danlos tipo vascular: reporte de un caso y revisión de literatura / Suspected vascular ehlers danlos syndrome: case report
Cevallos B, Carolina; Vargas, Emilio; González B, Sergio; Molgo, Montserrat.
  • Cevallos B, Carolina; Pontificia Universidad Católica de Chile. Santiago. CL
  • Vargas, Emilio; Pontificia Universidad Católica de Chile. Departamento de Dermatología. Santiago. CL
  • González B, Sergio; Pontificia Universidad Católica de Chile. Departamento de Anatomía Patológica. Santiago. CL
  • Molgo, Montserrat; Pontificia Universidad Católica de Chile. Departamento de Dermatología. Santiago. CL
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.
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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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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