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
ي Es
| LILACS
| ID: biblio-978779
المكتبة المسؤولة:
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.
Key words
النص الكامل:
1
الفهرس:
LILACS
الموضوع الرئيسي:
Ehlers-Danlos Syndrome
نوع الدراسة:
Diagnostic_studies
المحددات:
Adult
/
Humans
/
Male
اللغة:
Es
مجلة:
Rev. méd. Chile
موضوع المجلة:
MEDICINA
السنة:
2018
نوع:
Article