Results 101 to 110 of about 2,210,543 (259)
Natural history of aortic root aneurysms in Marfan syndrome.
Annals of Cardiothoracic Surgery, 2017 Background Cardiovascular complications account for a significant proportion of the shortened lifespan of Marfan syndrome (MFS) patients, with aortic dissection being the most dreadful complication.
Ayman Saeyeldin +10 more
semanticscholar +1 more source
Ectopia Lentis with Retinal Detachment in a Patient with Marfan Syndrome: A Case Report [PDF]
Journal of Clinical and Diagnostic ResearchMarfan syndrome is an autosomal dominant hereditary connective tissue disease caused by mutations in the Fibrillin-1 gene located on chromosome 15q15-21. Fibrillin is a specific type of glycoprotein widely distributed throughout the body, contributing to
Devwrath Suneet Upasani +2 more
doaj +1 more source
Homozygosity for autosomal dominant Marfan syndrome. [PDF]
, 1984 Juan Chemke +6 more
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Aortic aneurysm and non-Hodgkin’s lymphoma in Marfan syndrome
Turkish Journal of Hematology, 2009 The combination of Marfan syndrome with lymphoma is extremely rare. This report describes a case of Marfan syndrome who presented with chest discomfort and was diagnosed to have an aortic aneurysm and an additional incidental mediastinal mass that on ...
Sujoy Ghosh +2 more
doaj
Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family. [PDF]
, 1987 Raymond Dalgleish +2 more
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Marfan syndrome. Report of a patient
Acta Médica del Centro, 2015 Marfan syndrome is a congenital hereditary disease (sporadic in 15-30% of cases) of connective tissue, dominant autosomal with complete penetrance, with prevalence estimated at one per 5 000 people and incidence of one per 10 000 births without racial or
Luis Alberto Santos Pérez +2 more
doaj
A case of bilateral inguinal hernia associated with Marfan syndrome
Journal of Pediatric Surgery Case Reports, 2022 Marfan syndrome, a connective tissue disease, is associated with a high incidence and recurrence rate of inguinal hernia. We herein report a three-year-old boy with bilateral inguinal hernia associated with Marfan syndrome.
Yoshiki Yamaguchi +2 more
doaj
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. [PDF]
, 1992 Katariina Kainulainen +8 more
openalex +1 more source
Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family. [PDF]
, 1990 Cathérine Boileau +7 more
openalex +1 more source