Marfan Syndrome: A Report of Two Cases and Review

نویسندگان

  • Vinay Kumar Reddy
  • Satya Ramesh
چکیده

Marfan syndrome is an autosomal dominant disorder of the connective tissues, resulting in abnormalities of the musculoskeletal system, cardiovascular system and eyes. It has a prevalence of 1 in 100,000 population and occurs in all ethnic groups. It may be familial or due to new mutation (30%), in the fibrillin gene on arm of chromosome 15. It is estimated that one person in every 3000 to 5000 has Marfan’s syndrome may have cardiovascular abnormalities and may be complicated by infective endocarditis. About 90% of Marfan patients will develop cardiac complications.

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

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

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

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

Wiskott-Aldrich Syndrome (WAS): A Case Report in Mauritius and Review

Wiskott-Aldrich is an X-lined recessive disorder typically characterized by thrombocytopenia, eczema and recurrent infections. We report the four year treatment progress of a six year old boy who initially presented with vesicular lesions over the trunk, upper and lower extremities and face and blood tinged stools at the age of 2 weeks. From the family pedigree, there were two suspected cases t...

متن کامل

Intradural Lumbar Disc Herniation: Report of Two Cases and Review of the Literature

Background and Importance: Intradural lumbar disc herniation is a rare and uncommon presentation of lumbar disc herniation. It signifies a challenge for diagnostic and therapeutic scheme, and is associated with a greater incidence of cauda equina syndrome at presentation. Case Presentation: We describe two cases of intradural disc herniation who underwent surgery in Senegal review literat...

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 2011