Marfan syndrome.
نویسندگان
چکیده
CARDIOVASCULAR DISORDERS aortic anomalies aortic aneurism aortic arch, anomalies aortic valvular, anomalies cardiac congenital defects cardiomegaly cardiopathy, congenital heart conduction defects, cardiac arrhythmia, including tachycardia, atrial fibrillation, ventricular fibrillation heart conduction defects, cardiac arrhythmia, including: bradycardia, cardiac dysrhythmias mitral valve, defect mitral valve, prolapse tricuspid valve anomalies peripheral vessels changes arterial rupture/dissection varicosities
منابع مشابه
DIFFUSE ARTER IAL ECTASIA IN MARFAN SYNDROME
A 22 year old male referred with palpitation. General appearance and physical exam impressed us in that the patient has Marfan syndrome. Cardiac catheterization showed diffuse arterial ectasia. We found no previous report of this generalized diffuse ectasia.
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Objective(s)Marfan syndrome (MFS) is a severe connective tissue disorder withan autosomal dominant inheritance pattern. Early diagnosis is critical in MFS. Because of the large size of fibrillin-1 gene (FBN1), the uniqueness of mutations, and the absence of genotype-to-phenotype correlations linkage analysis can be very helpful for early diagnosis of MFS. In this study, eight polymorphic marker...
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Marfan syndrome (MFS) is a genetic disorder which is inherited by autosomal dominant traits. In MFS, lens displacement and cardiovascular involvement are important causes of morbidity and mortality in the clinical course of the disease. In this case study, the ocular involvement in a family with severe penetration of MFS is reported. Twelve members of a family (father, two daughters, three sons...
متن کاملگزارش یک مورد سندرم مارفان همراه با دفورمیتی‌های شدید اسکلتی با توارث اتوزوم مغلوب
A case of Marfan Syndrome with Severe Kyphoscoliosis in Recessive Autosomal from of Inheritance N. Tayebi [1] , M. tashakor [2] Received: 30/09/07 Sent for Revision: 23/04/08 Received Revised Manuscript: 15/07/08 Accepted: 23/08/08 Background and Objective: Marfan syndrome is known as an autosomal-dominant connective tissue disorder which affects the skeletal, ocular and cardiovas...
متن کاملIs Marfan syndrome associated with symptomatic intracranial aneurysms?
BACKGROUND AND PURPOSE Marfan syndrome is a heritable disorder of connective tissue caused by a deficiency of the glycoprotein fibrillin. In several publications and neurological textbooks, a relationship between Marfan syndrome and intracranial aneurysms has been assumed. METHODS The records of 135 patients classified as having Marfan syndrome who visited the Amsterdam Marfan clinic or were ...
متن کاملLike Father, Like Daughter—inherited cutis aplasia occurring in a family with Marfan syndrome: a case report
We present the case of a newborn with co-occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.
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ورودعنوان ژورنال:
- JBR-BTR : organe de la Societe royale belge de radiologie (SRBR) = orgaan van de Koninklijke Belgische Vereniging voor Radiologie
دوره 83 1 شماره
صفحات -
تاریخ انتشار 1997