4 edition of An overview of the Marfan syndrome found in the catalog.
An overview of the Marfan syndrome
Elizabeth Lieber Fox
Includes bibliographical references.
|Statement||by Elizabeth Lieber Fox.|
|LC Classifications||RC580.M37 F68 1989|
|The Physical Object|
|Pagination||xiv, 106 p. ;|
|Number of Pages||106|
|LC Control Number||89083525|
Summary of Marfan syndrome Marfan syndrome is a genetic connective tissue disorder with variable clinical presentation ranging from mild to severe systemic disease. The most serious manifestations involve cardiovascular defects, which may lead to early death if not properly managed. Marfan Syndrome: A Case Study Maysah Faisal Al-Mulla Final year medical student- Royal College of Surgeons in Ireland - Bahrain. Introduction: Marfan syndrome is an autosomal dominant, multisystemic connective tissue disease, associated with a mutation in fibrillin, and occasionally a mutation in.
She is an author of over scientific papers. As organiser of the International Consortium to find the Marfan syndrome gene (fibrillin-1) in , and a major contributor of over genotype – phenotype correlations to the International Marfan Database held in Paris, she has an overview of clinical and molecular genetic studies. Named after Antoine Marfan, the French doctor who discovered it in , Marfan syndrome is a disorder that affects the body's connective tissue, which is found everywhere in the body. Think of it as a type of "glue" that helps support all of your organs, blood vessels, bones, joints, and .
Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the gene for fibrillin-1 (FBN1). The leading cause of premature death in untreated indiv . Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects many parts of the body, it can cause many complications. Sometimes the complications are life threatening. Overview. Marfan syndrome is a genetic disorder.
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An Overview of the Marfan Syndrome by Elizabeth L. Fox (Author) ISBN Overview. Marfan syndrome, Marfan’s syndrome, or MFS, is a genetic disorder that affects connective tissue. Numerous organs might be affected in men and women with Marfan syndrome.
The cardiovascular, skeletal, and ocular systems are usually affected, along with the lungs and : Jennifer Laws. If you or a loved one has Marfan syndrome, this book will guide you through the condition and its treatment options.
This book details the signs and symptoms of MFS including related disorders like Ehlers-Danlos. We also take a look at how the condition is diagnosed, treatment options, genetics, Brand: CreateSpace Publishing.
Marfan’s syndrome is an autosomal dominant condition with an es- timated prevalence of one in 10, to 20, individuals. It is a rare hereditary connective tissue disorder that affects many parts of the body.1 There is no geographic, ethnic or gender predilection. Marfan Syndrome: Nerves.
Information on how the Dura (lining the brain and spinal cord) can be affected by Marfan syndrome. Marfan Syndrome: The Lungs. An overview of how Marfan syndrome can affect the lungs. Marfan Syndrome: The Eyes. How Marfan syndrome can affect the eyes, and what the available treatment and management options are.
Marfan's syndrome: an overview Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10, to 20, individuals. This rare hereditary connective tissue disorder affects many parts of the body.
The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic cr Cited by: Overview of the medical and research literature of Marfan Syndrome in This is a short overview of what has been going on in the research field during the past year. This list is not exhaustive and does not include case reports (report concerning one single patient).
Marfan syndrome (MFS) is a dominantly inherited disease of connective tissue with diverse manifestations (Table 1), involving primarily the skeletal, ocular, and cardiovascular systems. Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations of the gene FBN1 on chromosome 15q21, which is responsible for the production of fibrillin-1, a complex glycoprotein that is a major constituent of various connective tissue types (Dietz et al.
This book presents a comprehensive overview of clinical aspects of Marfan syndrome, FBN1 mutation analysis, the biology of fibrillin and fibrillin-containing microfibrils, and the molecular pathogenesis of the Marfan syndrome. The authors are prominent and active researchers in clinical and basic-science research on Marfan syndrome and fibrillin.
Marfan syndrome is a systemic disorder of connective tissue with a high degree of clinical variability. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. FBN1 pathogenic variants associate with a broad phenotypic continuum, ranging from isolated features of Marfan syndrome to neonatal presentation of severe and rapidly progressive disease in.
Marfan Syndrome by Peter N. Robinson,Maurice Godfrey Book Resume: Marfan Syndrome is a hereditary disorder of connective tissue which primarily affects the cardiovascular, skeletal, and ocular systems.
“A multiauthor and multidisciplinary text on Marfan syndrome describes in 27 chapters the diagnosis, clinical, psycho-social and therapeutic aspects of this less rare than thought disease.
To the best of my knowledge, the first book of its kind.” Reviews: 2. Below is a short summary of Marfan syndrome features.
You can get more detailed information about the effects on each system by clicking on the links provided. Heart and blood vessels (cardiovascular system) Enlarged or bulging aorta, the main blood vessel that carries blood from the heart to the rest of the body (aortic dilation or aneurysm).
A GUIDE TO MARFAN SYNDROME AND RELATED DISORDERS. This book was created to help readers understand the basics of Marfan syndrome diagnosis and treatment, as well to provide guidance on the lifestyle and practical issues commonly encountered by people with Marfan syndrome or a related disorder.
Introduction Marfan syndrome (MFS) is one of the most common inherited disorders of connective tissue [1, 2]. It is an autosomal dominant condition with a reported incidence of 1 in to individuals. Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit two copies of each autosomal dominant conditions, an individual has a disease-causing mutation in only one copy of the gene that causes the person to have the disease.
The mutation can be inherited from a parent, or can happen by chance for the first time in an. Historical Introduction The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account VictorA.
McKusick l nE. Williams, an ophthalmologistin Cincinnati, Ohio, described ectopia lentis in a brother and sister who were exceptionally tall and had been loosejointed from birth.
I Although there is a Williams syndrome. Management Overview Many of the features of Marfan syndrome are common in the general population; however, treatment is sometimes more complex and aggressive because of the underlying connective tissue disorder.
In addition, there are important considerations because the condition affects multiple body systems. Marfan syndrome The classic presentation of MFS includes aortic aneurysm or dissection, long extremities, arachnodactyly, joint hypermobility, and subluxation of the lens of the eye.
Marfan syndrome classically results in a superior and temporal displacement of the lens (upward and outward). Marfan syndrome is a genetic condition caused by a mutation, or change, in one of your genes, called the fibrillin-1 (FBN1) FBN1 gene makes fibrillin-1, which is a protein that forms elastic fibers within connective tissue.
Fibrillin-1 also affects levels of another protein that helps control how you grow. Most people who have Marfan syndrome inherit it from their parents.
Marfan syndrome is a heritable disorder of the connective tissue that affects mainly the cardiovascular system, skeletal system and eyes. Marfan syndrome almost always occurs because of a mutation in the gene (FBN1) that encodes the protein fibrillin.Marfan syndrome is a disorder of the body's connective tissues, a group of tissues that maintain the structure of the body and support internal organs and other tissues.
Children usually inherit the disorder from one of their parents. Some people are only mildly affected by Marfan syndrome, while others develop more serious symptoms.