نتایج جستجو برای: ehlers danlos syndrome

تعداد نتایج: 622312  

2014
Kevin C. Ching Kevin M. McCluskey Abhay Srinivasan

Peroneal artery arteriovenous fistulas and pseudoaneurysms are extremely rare with the majority of reported cases due to penetrating, orthopedic, or iatrogenic trauma. Failure to diagnose this unusual vascular pathology may lead to massive hemorrhage or limb threatening ischemia. We report an interesting case of a 14-year-old male who presented with acute musculoskeletal pain of his lower extre...

Journal: :Proceedings of the Royal Society of Medicine 1937

Journal: :Proceedings of the Royal Society of Medicine 1968

Journal: :Annals of the Rheumatic Diseases 1994

Journal: :American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2017

Journal: :The Journal of Nihon University School of Dentistry 1995
A Apaydin

Ehlers-Danlos syndrome (EDS), a group of rare, autosomal dominantly inherited connective tissue dysplasias, characterized mainly by abnormal collagen synthesis, has been shown to exhibit extensive heterogeneity with at least 11 clinical entities differentiated by their clinical, biochemical, and genetic features. Of these, Type VIII EDS is of special interest from a dental viewpoint, due mainly...

Journal: :American journal of medical genetics. Part C, Seminars in medical genetics 2017
Jessica M Bowen Glenda J Sobey Nigel P Burrows Marina Colombi Mark E Lavallee Fransiska Malfait Clair A Francomano

Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised ...

2017
Stephen Kucera Stephen N Sullivan

The case of a patient with visceroptosis and Ehlers-Danlos syndrome hypermobility type (RDS-HT) is reported here. The literature on this unusual but probably under-recognized complication is reviewed.

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