Thesis (Ph. D.)--Oregon State University, 1978. / Includes bibliographical references (leaves 155-165). Also available online.

This research has provided an analysis of how the issue of age is related to the expression of specific symptoms characteristic of the genetic disorder known as Marfan syndrome. Marfan syndrome occurs when the body cannot produce, or produces too little fibrillin-1, a component of the connective tissues. The body systems affected by Marfan syndrome include the skeletal, cardiovascular, ocular, and pulmonary systems. Evidence drawn from medical case studies showed that while not statistically significant, illustrated that symptom expression increases with age, especially during the period of adolescence. The evidence also suggested that the type of physician involved in a diagnosis may affect the information provided in case studies. / Department of Anthropology

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Thesis (M.S.)--University of Iowa, 2009. / Thesis supervisor: Milan Sonka. Includes bibliographical references (leaves 48-49).

One of the author's previously published articles is inserted. / Bibliography: leaves 174-191. / xi, 213 leaves, [15] leaves of plates : / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / A clinical and molecular study of patients with unequivocal Marfan sydnrome, or with an undiagnosed connective tissue disorder with some features in common with Marfan syndrome. Presents the phenotype of six Marfan patients with an FBN1 mutation, patients with Shprintzen-Goldberg syndrome or furlong syndrome, and two children with congenital aneurysms. Details the molecular screening of 44% of the FBN1 gene coding sequence for putative mutations. / Thesis (M.D.)--University of Adelaide, Dept. of Paediatrics, 1995

Marfan syndrome, affecting approximately one out of every 5,000 people, is characterized by abnormal bone growth, ectopia lentis, and often-fatal aortic dilation and dissection. The root cause is a faulty extracellular matrix protein, fibrillin-1, which associates with elastin in many tissues. Common carotids from wild-type controls and mice heterozygous for the mgR mutation, the most commonly used mouse model of Marfan syndrome, were studied in a biaxial testing device. Mechanical data in the form of pressure-diameter and force-stretch tests in both the active and passive states were collected, as well data on the functional responses to phenylephrine, carbamylcholine chloride, and sodium nitroprusside. Although little significant difference was found between the heterozygous and wild-type groups in general, the in vivo stretch for both groups was significantly different from previously studied mouse vessels. Although the two groups do not exhibit significant differences, this study comprises a control group for future work with mice homozygous for mgR, which do exhibit Marfan-like symptoms. As treatment of Marfan syndrome improves, more Marfan patients will survive and age, increasing the likelihood that they will develop many of the vascular complications affecting the normal population, including hypertension and atherosclerosis. Therefore, it is imperative to gather biomechanical data from the Marfan vasculature so that clinicians may predict the effects of vascular complications in Marfan patients and develop appropriate methods of treatment.

Thesis--University of Oklahoma. / Includes bibliographical references.