Thirty eight relatives of a patient with Marfan syndrome were screened for the presence of this disorder. Marfan syndrome was newly diagnosed in living members of 4 generations in this family without evidence of ocular abnormality in any. After screening, 10 relatives were newly diagnosed as having definite, and 5 relatives as having possible, Marfan syndrome. Family screening has drawbacks as ...

Mutations in fibrillin-1 (FBN1) cause a wide spectrum of disorders, including Marfan syndrome, which have in common defects in fibrillin-1 microfibrils. Ectopia lentis and myopia are frequently observed ocular manifestations of Marfan syndrome. Glaucoma is also associated with Marfan syndrome, though the form of glaucoma has not been well-characterized. In this report, ocular examination of a p...

BACKGROUND AND PURPOSE It has been proposed that patients with Marfan syndrome have an increased prevalence of intracranial aneurysms. This proposition is based on 10 clinical reports, 1 pathology case, and an autopsy series of 7 patients. By contrast, 5 clinical series of Marfan patients have failed to document any such relationship. We present our institution's autopsy and clinical experience...

Mutations in the gene for fibrillin-1 (FBN1) have been shown to cause Marfan syndrome, an autosomal dominant disorder of connective tissue characterised by pleiotropic manifestations involving primarily the ocular, skeletal, and cardiovascular systems. Fibrillin-1 is a major component of the 10-12 nm microfibrils, which are thought to play a role in tropoelastin deposition and elastic fibre for...

We report on an 18-year-old man who had both acute monoblastic leukemia and Marfan syndrome. A diagnosis of Marfan syndrome was established by those characteristics of arachnodactyly, ectopia lentis, mitral valve prolapse, and mitral regurgitation. Findings on bone marrow examination of the patient showed that most of nucleated cells were monoblasts and immunophenotype of those cells showed CD1...

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 further investigation turned out to be a diffuse large B cell lymphoma. We have suggested a hypothesis which can explain the occurrence of lymphom...

Beals syndrome is an autosomal-dominant connective tissue disorder, similar in many respects to Marfan syndrome, characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia. This relatively new syndrome contrasted with Marfan by much less incidences of eye and heart anomalies and the congenital presence of contractures. It was ...

BACKGROUND A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal's syndrome) and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. METHODS In this article we collect...

To purchase reprints, contact The innoVisinn Group, 101 Columhia,AhsoViejo,CA 92656, Phone, (800) 809-2273 or (9491 362-2030 (ext 532); iax, (949) 362-2049: e-mail, he physiological changes of pregnancy can greatly exaggerate preexisting health conditions in the mother. One such condition is Marfan syndrome, a genetically inherited disorder characterized hy weakened connective tissue. Persons w...

BACKGROUND Increased risk of spontaneous pneumothorax has been described in patients with Marfan syndrome and has been attributed, in part, to the presence of apical blebs and bullae. OBJECTIVES We assess the risk of pneumothorax and its relationship to the presence of apical blebs and bullae in patients with Marfan syndrome in the era of CT imaging. METHODS A retrospective cohort study was...