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Ann R Coll Surg Engl ; 97(5): e73-6, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26264107

RESUMO

We report two patients who presented with extensive aneurysmal disease, in association with minimal external physical signs. Patient 1 remained genetically undiagnosed despite multiple structural, biochemical and genetic investigations. He made a good recovery following surgery for popliteal and left axillary artery aneurysms. Patient 2 was diagnosed with vascular type Ehlers-Danlos syndrome, associated with a high degree of tissue and blood vessel fragility, and is being managed conservatively. Early multidisciplinary assessment of such patients facilitates accurate diagnosis and management.


Assuntos
Aneurisma/genética , Aneurisma/cirurgia , Aneurisma/diagnóstico , Análise Mutacional de DNA , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Síndrome de Ehlers-Danlos/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Vasculares
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