Results 81 to 90 of about 1,915,478 (171)

Ehlers-Danlos syndrome type IV

Orphanet Journal of Rare Diseases, 2007
Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous ...
Germain Dominique P
doaj   +1 more source

A new COL3A1 mutation in Ehlers-Danlos syndrome type IV

, 2013
The vascular type of the Ehlers-Danlos syndrome (Ehlers-Danlos syndrome type IV, EDS IV; OMIM #130050) is a rare connective tissue disorder with autosomal dominant transmission caused by mutations in the COL3A1 gene resulting in increased fragility of ...
Aumayr, Klaus, Trautinger, Franz, Giunta, Cecilia, Eder, Johanna, Reichel, Christofer, Rohrbach, Marianne, Laccone, Franco   +6 more
core   +1 more source

Peroneal Arteriovenous Fistula and Pseudoaneurysm: An Unusual Presentation

Case Reports in Vascular Medicine, 2014
Peroneal artery arteriovenous fistulas and pseudoaneurysms are extremely rare with the majority of reported cases due to penetrating, orthopedic, or iatrogenic trauma.
Kevin C. Ching, Kevin M. McCluskey, Abhay Srinivasan   +2 more
doaj   +1 more source

Cerebral air embolism associated with cavitary lung lesion in a patient with Ehlers-Danlos syndrome

Radiology Case Reports
Pneumocephalus, is a general term describing the presence of air within the intracranial structures. It most commonly occurs due to dural injury, often the sequela of head trauma or surgery.
Joshua Mangerel, MD, Daniel Masri, MD, Marshall Gelbman, MD   +2 more
doaj   +1 more source

Fatal Hemorrhage during Nephrolithotomy in a Patient with Unknown Vascular Ehlers-Danlos Syndrome Type IV

, 2005
Ehlers-Danlos syndrome type IV (vascular EDS), is a life-threatening inherited connective tissue disorder resulting from mutations in the COL3A1 gene coding for type III procollagen. Vascular EDS causes severe fragility of connective tissues.
B. Frea, S. Zaramella, S. Rocca Rossetti, A. Tizzani   +3 more
core   +1 more source

Intraabdominal Hemorrhage Due to Spontaneous Rupture of Superior Mesenteric Artery

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2014
Spontaneous rupture of mesenteric vessel is an extremely rare entity in children. We describe a 14-year-old boy who was presented with an acute abdomen and hemorrhagic shock without any history of trauma.
Onder Ozden, Ender Fakioglu, Murat Alkan, Hilmi Serdar Iskit   +3 more
doaj  

Novel treatment of celiac trunk and proximal splenic artery aneurysms in vascular Ehlers-Danlos patient with combined Onyx and coil embolization

Journal of Vascular Surgery Cases and Innovative Techniques
Vascular Ehlers-Danlos syndrome is associated with severe arterial fragility and life-threatening visceral complications. We report a 30-year-old woman with genetically confirmed vascular Ehlers-Danlos syndrome who presented with abdominal pain, nausea ...
Amani Politano, MD, Tiffany Lian, MD, Harish Krishnamoorthi, MD, Cherrie Abraham, MD, Sherene Shalhub, MD, MPH, FACS, DFSVS, John Kaufman, MD   +5 more
doaj   +1 more source

Pregnancy outcome in joint hypermobility syndrome and Ehlers–Danlos syndrome

, 2017
IntroductionAn increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected. Material and methodsIn this nationwide cohort study from 1997 through 2011, women with either joint hypermobility syndrome ...
Jonas F. Ludvigsson, Sundelin, Heléne,, Olof Stephansson, Stephansson, Olof,, Johansson, Kari,, Ludvigsson, Jonas F.,, Heléne E. K. Sundelin, Kari Johansson, Sundelin, Helene E. K.,, Sundelin, HEK, Stephansson, O,, Johansson, K, Ludvigsson, JF   +12 more
core   +1 more source

Ehlers–Danlos Syndrome in an Adult Woman: A Hidden Syndrome [PDF]

, 2014
Ehlers–Danlos syndrome is a rare disease and a diagnostic challenge. This case report serves to remind the clinician that it is important to identify all affected patients in order to prevent ...
Hu, Cinzia, Francesca Minonzio, Alessandra Bassotti, Maria Domenica Cappellini, Diana Spinelli, Cinzia Hu, Maria Cappellini, Spinelli, Diana, Minonzio, Francesca, Cappellini, Maria Domenica, Bassotti, Alessandra   +10 more
core   +1 more source

A ripping bike race: spontaneous coronary dissection complicated by cardiac tamponade, unmasking vascular Ehlers-Danlos in a young man

Emergency Care Journal, 2019
Spontaneous coronary artery dissection (SCAD) is a rare cause of acute coronary syndrome. Typically, it occurs in young women without atherosclerotic risk factors.
Inne Hendrickx, Benjamin Scott
doaj   +1 more source