Marfan syndrome

نویسندگان

  • Andrew R.T. McBride
  • Martin Gargan
چکیده

ont matter & 2006 006.09.007 thor. Tel.: +44 117 9. : Andrew.McBride@ rtin.gargan@ubht Summary Marfan syndrome is an inherited connective tissue disorder with multi-organ system involvement caused by mutations in the gene encoding the glycoprotein fibrillin-1 (FBN1). The condition presents to the orthopaedic surgeon with an array of musculoskeletal problems. This article will review the pathogenesis, diagnosis, clinical manifestations and treatment options. & 2006 Elsevier Ltd. All rights reserved.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

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.

متن کامل

Informative STR Markers for Marfan Syndrome in Birjand, Iran

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...

متن کامل

Marfan Syndrome in an Iranian Family: A Case Series

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 کامل

گزارش 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 کامل

Is 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 کامل

Like 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.

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2007