Marfan-Syndrom
Bilateral Extracranial Carotid Artery Aneurysms: A Rare Complication of Marfan Syndrome
... Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by a mutation in the FBN1 gene, which encodes for the extracellular matrix protein fibrillin-1. The MFS clinical manifestations that ...
5
The Characteristics of Acute Aortic Dissection among Young Chinese Patients: A Comparison between Marfan Syndrome and Non Marfan Syndrome Patients
... between Marfan syndrome and non-Marfan syndrome patients was ...with Marfan syndrome developed acute AoD at a younger age than patients without Marfan ...with Marfan syndrome upon ...
6
Mair, Helmut (2004): VERGLEICH DER LANGZEITERGEBNISSE VON PATIENTEN MIT UND OHNE MARFAN-SYNDROM NACH CHIRURGISCHER VERSORGUNG VON AORTENANEURYSMEN UND -DISSEKTIONEN. Dissertation, LMU München: Medizinische Fakultät
... ist heute die Indikation zur prophylaktischen Operation gegeben, da oberhalb dieses Wertes die Inzidenz von Komplikationen wie Dissektion oder Ruptur deutlich ansteigen (Roberts 1982, Gott 1994). Dies gilt umso mehr für ...
115
Marfan syndrome Demonstration of abnormal elastin in aorta
... of Marfan syndrome, who died of vascular complications, were subjected to biochemical analyses of the connective tissue; for comparison, aortae from eight age-matched controls, without evidence of connective ...
9
Prevalence, incidence, and age at diagnosis in Marfan Syndrome
... All authors have participated in the writing of the manuscript. The following specific areas where each author have an provide extra contribution. KG: Main author of the manuscript, general data collection and ...
10
Recapitulating and Correcting Marfan Syndrome in a Cellular Model
... Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in FBN1 gene, which encodes a key extracellular matrix protein FIBRILLIN-1. The haplosufficiency of FBN1 has been implicated in ...
16
Long-term follow-up after scleral lens fixation in patients with Marfan syndrome
... Marfan syndrome is a rare genetic disorder of the con- nective tissue, with an incidence of one to two per 10.000 individuals [1, 2]. It was first described by the French pediatrician Antoine-Bernard Marfan ...
6
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome
... microfibrils made by the proband's fibroblasts were indistinguishable from control cells. Sequencing of the FBN1 gene revealed a heterozygous C to T transition at nucleotide 8176 resulting in the substitution of a ...
7
Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome
... Abstract: Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 ...
19
Dural Ectasia in Marfan Syndrome: A Case Control Study
... of Marfan Syndrome and Other Marfanlike Conditions, asking for persons having the diagnosis of MFS; or through invitations distributed in the Department of Tho- racic and Cardiovascular Surgery at our hospital to ...
7
Accuracy of pedicle screw placement in patients with Marfan syndrome
... with Marfan syndrome is enlarged because of dura ectasia that leads to a larger safe margin between the spinal cord and medial wall of the pedicel, thus a 2 mm threshold is sufficient to ensure an intact spinal ...
6
Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts
... the Marfan syndrome in the majority of individuals (confirming recent immunohistochemical and genetic linkage studies) and that a variety of mutations can produce the phenotype associated with the ...
9
Health Supervision for Children With Marfan Syndrome
... with Marfan syndrome, al- though it is not advised for those with moderately severe dural ecta- ...with Marfan syndrome, a genetic counselor, and a perinatol- ...
16
Marfan syndrome and mitral valve prolapse
... whole valve in a relatively homogeneous way. In idiopathic MVP, necropsy studies show that the morphologic abnormalities can involve 1 or both leaflets, and the mor- phological changes may be heterogeneous within the ...
5
Gastrointestinal Manifestations of Marfan Syndrome
... of Marfan syndrome in young patients presenting with gastrointestinal symptoms was highlighted in the following case report by Inayat et ...have Marfan syndrome, who presented with acute abdominal pain and ...
7
Marfan syndrome: current perspectives
... with Marfan syndrome with FBN1 dominant negative mutations or haploinsufficiency, as well as the possible explanation of the better effect of losartan in patients with ...
11
Diagnosis and Management of Infantile Marfan Syndrome
... The experience of the authors with 22 severely affected infants diagnosed as having Marfan syndrome in the first 3 months of life is described and the literature on 32 additional infants[r] ...
10
Health Supervision for Children With Marfan Syndrome
... If a parent is affected, screen older siblings for Marfan syndrome and other family members at risk;.. this may involve molecular genetic testing..[r] ...
7
EARLY MANIFESTATIONS OF THE CARDIOVASCULAR DISORDERS IN MARFAN SYNDROME
... catheterizations, angiocardiograms and ret- rograde aortograms were performed. All pa- tients had demonstrable aneurysms of the aortic sinuses of Valsalva and dilatation of the ascending[r] ...
16
Severe Perinatal Marfan Syndrome
... 3 mo: mitral valve pro- lapse, tricuspid valve prolapse, mitral re- gurgitation, tricuspid regurgitation, dilated aortic root, & ventni- des.. Bilateral lower lobe infiltrates & [r] ...
9