objective(s)marfan syndrome (mfs) is a severe connective tissue disorder withan autosomal dominant inheritance pattern. early diagnosis is critical in mfs. because of the large size of fibrillin-1 gene (fbn1), the uniqueness of mutations, and the absence of genotype-to-phenotype correlations linkage analysis can be very helpful for early diagnosis of mfs. in this study, eight polymorphic marker...

We present the case of a newborn with co-occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.

BACKGROUND AND PURPOSE Marfan syndrome is a heritable disorder of connective tissue caused by a deficiency of the glycoprotein fibrillin. In several publications and neurological textbooks, a relationship between Marfan syndrome and intracranial aneurysms has been assumed. METHODS The records of 135 patients classified as having Marfan syndrome who visited the Amsterdam Marfan clinic or were ...

purpose: to report clinical outcomes of crystalline lens extraction and iris claw artisan intraocular lens (iol) implantation in patients with lens subluxation secondary to marfan syndrome.  methods: this retrospective study enrolled 14 eyes of 12 marfan patients with lens subluxation who underwent crystalline lens removal and artisan iol implantation. pre- and post-operative data, including pa...

Objective(s)Marfan syndrome (MFS) is a severe connective tissue disorder withan autosomal dominant inheritance pattern. Early diagnosis is critical in MFS. Because of the large size of fibrillin-1 gene (FBN1), the uniqueness of mutations, and the absence of genotype-to-phenotype correlations linkage analysis can be very helpful for early diagnosis of MFS. In this study, eight polymorphic marker...

fibrillin is a large glycoprotein synthesized in the tissues involved in marfan syndrome, and known to be involved in tissue elasticity. the syndrome is corresponded to fbn1 gene and is characterized by cardiovascular, ocular, and skeletal abnormalities. n-terminus of fibrillin 1 binds to microfibril-associated glycoprotein 1 (magp-1) in a calcium-dependent manner. in this study, the amino acid...

A 22 year old male referred with palpitation. General appearance and physical exam impressed us in that the patient has Marfan syndrome. Cardiac catheterization showed diffuse arterial ectasia. We found no previous report of this generalized diffuse ectasia.

Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart ...

Marfan syndrome is a connective tissue disorder with ocular, musculoskeletal and cardiovascular manifestations that are caused by mutations in fibrillin-1, the major constituent of extracellular microfibrils. Mouse models of Marfan syndrome have revealed that fibrillin-1 mutations perturb local TGFbeta signaling, in addition to impairing tissue integrity. This discovery has led to the identific...