Includes bibliographic references and index.
|Statement||[edited by] Peter N. Robinson, Maurice Godfrey.|
|Series||Medical intelligence unit, Medical intelligence unit (Unnumbered : 2003)|
|Contributions||Robinson, Peter N. 1963-, Godfrey, Maurice.|
|LC Classifications||RC580.M37 M37 2004|
|The Physical Object|
|Pagination||218 p. :|
|Number of Pages||218|
|LC Control Number||2004015623|
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 multiple organ Author: Harry C Dietz. “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.” (Pediatric Endocrinology Reviews (PER), )5/5(2). Marfan Syndrome is a hereditary disorder of connective tissue which primarily affects the cardiovascular, skeletal, and ocular systems. Remarkable progress in the field has been made in both clinical and basic-science research since the discovery of the gene for fibrillin-1 (FBN1) in , mutations in which cause the Marfan syndrome. This book has been created for patients who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells patients where and how to look for information covering virtually all topics related to marfan syndrome (also Arachnodactyly; Contractural Arachnodactyly 3/5(2).
Marfan's syndrome was first described in by the French paediatrician, Professor Antoine Marfan. 1 He described a 5‐year‐old girl, Gabrielle, who had the typical phenotype we now associate with this condition. In , Salle described mitral valve abnormalities and heart dilatation in an infant with heart failure, but it was not until that the typical cardiac abnormalities (aortic Cited by: Marfan syndrome is a disorder involving the body's connective tissue. Connective tissue has many important functions, including supporting tissues in the body and assisting with growth and development of the body's cells. Learn more about this condition. Marfan syndrome Awareness. K likes. Interested in Marfan Syndrome Research Studies? Click the Link in our profile to find a study near you!Followers: K. 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.
There exists the possibility that the Marfan syndrome phenotype may be produced by mutations in at least one other gene, for this reason, a definitive DNA-based test is not available molecular genetic testing for mutations in the fibrillin-1 (FBN1) gene on chromosome locus 15q Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.. Because connective tissue is found throughout the body. Marfan Syndrome Definition Marfan syndrome is an inherited disorder of the connective tissue that causes abnormalities of the patient's eyes, cardiovascular system, and musculoskeletal system. It is named for the French pediatrician, Antoine Marfan (–), who first described it in Marfan syndrome is sometimes called arachnodactyly, which. Marfan syndrome is an autosomal dominant disorder of connective tissue in which cardiovascular, skeletal, and ocular abnormalities may be present to a highly variable degree. Prevalence has been estimated at 2 to 3 in 10,, and 25% to 30% of cases represent new mutations. Prognosis is mainly determined by progressive dilatation of the aorta, potentially leading to aortic dissection and death.