Marfan syndrome is an inherited connective tissue disorder with multi-organ system involvement caused by mutations in the gene encoding the glycoprotein fibrillin-1 (FBN1). The condition presents to the orthopaedic surgeon with an array of musculoskeletal problems. This article will review the pathogen...
Marfan syndrome: 30 years of research equals 30 years of additional life expectancy. Heart 2009; 95(3): 173-5.Pyeritz RE. Marfan syndrome: 30 years of research equals 30 years of additional life expectancy. Heart. 2009 Mar;95(3):173-5....
Marfan syndrome is a rare disease of the connective tissues, affecting multiple organ systems. Elevated morbidity and mortality in these patients raises the issue of costs for sickness funds and society. To date, there has been no study analysing the cos
- 《Cell & Tissue Research》 被引量: 45发表: 2012年 Marfan syndrome: A review The Marfan syndrome became renowned following the death of volleyball great Flo Hyman in January of 1986. While to date no exact cause of the syndrome has ... Samani,Jacqueline - 《Sports Medicine Training & ...
Martin Hulpke-WetteScientific ResearchOpen Journal of Thoracic SurgeryBuchhorn R, Kertess-Szlaninka T, Dippacher S, Hulpke-Wette M. Neonatal Marfan syndrome: improving the bad prognosis with a strict conservative treatment with carvedilol? Open J Thorac Surg 2014;4:44-7....
作者: Bert Callewaert MD Research Fellow,Fransiska Malfait MD, PhD Research Fellow,Bart Loeys MD, PhD Clinical Geneticist and Senior Researcher,Anne De Paepe MD, PhD Professor and Head of Department 展开 摘要: Ehlers-Danlos syndromes (EDS) and Marfan syndrome (MFS) are multisystemic disorders ...
Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in fibrillin-1 (encoded by FBN1 in humans and Fbn1 in mice), a matrix component of extracellular microfibrils. A distinct subgroup of individuals with Marfan syndrome have distal airspace enlargement, histo...
The cardiovascular involvement of Marfan syndrome is usually referred as the most serious and severe clinical manifestation. However, it rarely occurs in children. This case report presents two siblings who have been initially diagnosed with aortic aneurysm which eventually turned out to be a manifestat...
Marfan syndrome, which is characterized by manifestations in the skeletal, ocular and cardiovascular systems, is one of the most common inherited connective-tissue disorders. The independently performed genetic assignment of the Marfan locus and classical biochemical and immunohistochemical analyses complemented...
Bram Trachet2, Patrick Segers2, Laura Muino Mosquera1, Johan De Sutter3, Lynn Sakai4, Anne De Paepe1 and Julie De Backer1 Background: Mild intrinsic cardiomyopathy in patients with Marfan syndrome (MFS) has consistently been evi- denced by independent research groups...