Literature DB >> 27493359

Marfan syndrome affecting a whole Sudanese family.

Laila M Elmahdi1, Sulafa Km Ali1.   

Abstract

Marfan syndrome (MS, OMIM 154700) is an autosomal dominant disorder of fibrous connective tissue with striking pleiotropism and clinical variability. The cardinal features occur in skeletal, ocular, and cardiovascular systems. We describe a Sudanese family with the father and all his 4 children manifesting the syndrome. To our knowledge, there were no previously reported MS cases from Sudan.

Entities:  

Keywords:  Echocardiography; Fibrillin-1 gene; Marfan syndrome

Year:  2013        PMID： 27493359      PMCID： PMC4949965     

Source DB:  PubMed          Journal:  Sudan J Paediatr        ISSN： 0256-4408


  10 in total

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7.  Device closure of patent ductus arteriosus in Marfan patients: safety and effect on the aortic root diameter.

Authors:  Keyhan S Zanjani; Abdul Rahim Wong; Masood Sadiq; Howard S Weber; Nancy G Cutler
Journal:  Congenit Heart Dis       Date:  2010 Sep-Oct       Impact factor: 2.007

8.  Fatal aortic dissection in a patient with a family history of Marfan syndrome.

Authors:  Meredith L Birsner; John L Farber; Vincenzo Berghella
Journal:  Obstet Gynecol       Date:  2008-08       Impact factor: 7.661

9.  Comparison of clinical characteristics and frequency of adverse outcomes in patients with Marfan syndrome diagnosed in adulthood versus childhood.

Authors:  Lisa Willis; Genie E Roosevelt; Anji T Yetman
Journal:  Pediatr Cardiol       Date:  2009-01-30       Impact factor: 1.655

Review 10.  Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.

Authors:  H C Dietz; R E Pyeritz
Journal:  Hum Mol Genet       Date:  1995       Impact factor: 6.150
  10 in total

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