Results 71 to 80 of about 2,210,543 (259)
Saudi Journal of Anaesthesia, 2013 Due to high mortality associated with aortic dissection, anesthetic management of patients with Marfan syndrome with severe aortic root dilation is a challenging situation.
Tanmoy Ghatak +2 more
doaj +1 more source
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery
Human Mutation, 2016 Marfan syndrome (MFS) is a rare, autosomal‐dominant, multisystem disorder, presenting with skeletal, ocular, skin, and cardiovascular symptoms. Significant clinical overlap with other systemic connective tissue diseases, including Loeys–Dietz syndrome ...
A. Verstraeten +3 more
semanticscholar +1 more source
Growth Charts for Children With Beckwith–Wiedemann Spectrum
American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp‐specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp ...
Saskia M. Maas +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt +4 more
wiley +1 more source
Marfan and Marfan-like syndromes
Artery Research, 2009 With the help of both clinical and genetic diagnostic tools, the spectrum of inherited disorders affecting the arterial system has extended tremendously over the past decades. Discriminating these different entities is important since prognosis and treatment may differ substantially according to the diagnosis. Here we provide an overview of the current
Bart Loeys, A De Paepe, J. De Backer
openaire +3 more sources
Clinical and Experimental Dental Research, Volume 11, Issue 4, August 2025.ABSTRACT Objective The impact of orthodontic forces on pulp stone formation has been the focus of several studies. Given that orthodontic extractions typically involve the application of greater forces to the teeth, the aim of this study was to compare the extent of pulp stone formation in the molar teeth of patients undergoing orthodontic treatment ...
Kosar Gholinezhad +4 more
wiley +1 more source
International Journal of Clinical Practice, 2007 Marfan syndrome (MFS) is a dominantly inherited connective tissue disorder caused by mutations in the fibrillin-1 gene. Past research has focused on younger patients as lifespan was known to be significantly reduced. This study aims to describe the complications, including those affecting the eyes, heart and musculoskeletal system, faced by older ...
Ali Hasan +2 more
openaire +3 more sources
Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia
Asian Journal of Surgery, 2017 Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature ...
Shruti Thakur +4 more
doaj +1 more source
Journal of Arrhythmia, Volume 41, Issue 4, August 2025.This systematic review aims to determine whether MVS reduces the incidence of VA and SCD in patients with MVP. Available studies show a likely reduction when surgery is performed in line with current guideline‐directed indications; however, a residual risk of VA and SCD remains.
James N. Cameron +12 more
wiley +1 more source