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
en Es
| LILACS
| ID: biblio-978779
Biblioteca responsable:
CL1.1
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
Asunto principal:
Síndrome de Ehlers-Danlos
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
Es
Revista:
Rev Med Chil
/
Rev. méd. Chile
/
Rev. méd. Chile (En línea)
/
Revista médica de Chile
Asunto de la revista:
MEDICINA
Año:
2018
Tipo del documento:
Article
País de afiliación:
Chile