Marfan Syndrome with Varieties of Clinical Features

Authors

  • Goutam Kumar Acherjya Junior consultant (Medicine), UHC, Bagerpara, Jessore
  • Keya Tarafder Lecturer, Department of Microbiology, Jessore Medical College, Jessore
  • Md Din Ul Islam Associate Professor, Department of Microbiology, Jessore Medical College, Jessore
  • Mahabubur Rahman Assistant Professor, Department of Pediatrics, Jessore Medical College, Jessore
  • Mostofa Kamal Chowdhury Assistant Registrar, Department of Endocrinology, Dhaka Medical College Hospital, Dhaka

DOI:

https://doi.org/10.3329/jom.v19i1.34845

Keywords:

Marfan Syndrome, Mitral valve prolapse, Dilatation of ascending aortic root

Abstract

Marfan Syndrome is an autosomal dominant disorder caused by mutation in the extracellular matrix protein fibrilin-1 gene located on chromosome 15. It has variable range of expression.We describe a case of a 12 year aged girl with positive family history including lean and thin body stature, skin striae, joint hyper mobility, high arched palate, mal occlusion of teeth, pectus excavatum, winging of scapula, scoliosis of back bone, total arm span more than total body height (1.11:1), lower segment greater than upper segment (1.40:1), severe form of mitral valve prolapse and aortic root dilatation. There are a lot of features of Marfan Syndrome in our single patient which is rare in earlier available case reports.

J MEDICINE Jan 2018; 19 (1) : 58-62

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Published

2017-12-07

How to Cite

Acherjya, G. K., Tarafder, K., Islam, M. D. U., Rahman, M., & Chowdhury, M. K. (2017). Marfan Syndrome with Varieties of Clinical Features. Journal of Medicine, 19(1), 58–62. https://doi.org/10.3329/jom.v19i1.34845

Issue

Section

Case Reports