purpose : to report two patients with spontaneous scleral perforation and bleb formation associated with marfan syndrome (mfs) which one of them also showed bilateral optic nerve dural ectasia. case reports : an 11-year-old girl was referred with progressive myopia. past medical history was negative. slit-lamp examination revealed bilateral scleral thinning and perforation with bleb formation, ...

Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. These primary skeletal manifestations affect the growth pattern in MFS. Therefore, it is not appropriate to use normal growth charts to evaluate the growth status of MFS. We aimed to develop disease-specific growth charts for Korean MFS patients and to u...

Miller-Fisher Syndrome (MFS) is considered to be a variant of Guillain-Barree Syndrome (GBS). The typical clinical features of MFS include external ophthalmoplegia, ataxia and areflexia. Anti-GQ1b antibody is an important biomarker for the diagnosis of MFS, not just for typical MFS but also for ‘lessextensive forms’ and ‘massive-extensive forms’ of MFS. ‘Anti-GQ1b antibody syndrome’ was used to...

BACKGROUND Although periodontitis is a risk factor for cardiovascular disease (CVD), the influence of periodontitis on Marfan syndrome (MFS) with CVD is unclear. The aim of this study was to assess the relationship between periodontal bacterial burden and MSF with CVD. METHODS AND RESULTS The subjects were patients with MFS with CVD (n = 47); age and gender matched non-MFS CVD patients (n = 4...

Campylobacter jejuni has been identified as the predominant cause of antecedent infection in Guillain-Barré syndrome (GBS) and Miller Fisher syndrome (MFS). The risk of developing GBS or MFS may be higher after infection with specific C. jejuni types. To investigate the putative clonality, 18 GBS- or MFS-related C. jejuni strains from The Netherlands and Belgium and 17 control strains were anal...

OBJECTIVE Marfan syndrome (MFS) involves a deficiency of the structural extracellular matrix component fibrillin-1 and overactivation of the transforming growth factor-β (TGF-β) signalling pathway. The TGF-β signalling pathway also actively participates in malignant transformation. Although anecdotal case reports have suggested associations between MFS/MFS-like conditions and several haematolog...

Due to age dependent organ manifestation, diagnosis of Marfan syndrome (MFS) is a challenge, especially in childhood. It is important to identify children at risk of MFS as soon as possible to direct those to appropriate treatment but also to avoid stigmatization due to false diagnosis. We published the Kid-Short Marfan Score (Kid-SMS) in 2012 to stratify the pre-test probability of MFS in chil...

marfan syndrome (mfs) is a genetic disorder which is inherited by autosomal dominant traits. in mfs, lens displacement and cardiovascular involvement are important causes of morbidity and mortality in the clinical course of the disease. in this case study, the ocular involvement in a family with severe penetration of mfs is reported. twelve members of a family (father, two daughters, three sons...

BACKGROUND Marfan syndrome (MFS) is caused by mutations in the gene encoding fibrillin-1 (FBN1); however, the mechanisms through which fibrillin-1 deficiency causes MFS-associated aortopathy are uncertain. Recently, attention was focused on the hypothesis that MFS-associated aortopathy is caused by increased transforming growth factor-β (TGF-β) signaling in aortic medial smooth muscle cells (SM...