Multiple Epiphyseal Dysplasia (MED): A Rare Type of Skeletal Dysplasia

  • Mohammad Imnul Islam Assistant Professor, Department of paediatrics, Bangabandhu Sheikh Mujib Medical University, Dhaka
  • Suraiya Begum Assistant Professor, Department of paediatrics, Bangabandhu Sheikh Mujib Medical University, Dhaka
  • Manik Kumar Talukdar Assistant Professor, Department of paediatrics, Bangabandhu Sheikh Mujib Medical University, Dhaka
  • Md Enayet Karim Professor, Department of Radiology & Imaging, Bangabandhu Sheikh Mujib Medical University, Dhaka
  • Shahana Akhter Rahman Professor, Department of paediatrics, Bangabandhu Sheikh Mujib Medical University, Dhaka
Keywords: Multiple epiphyseal dysplasia, Flexion deformity

Abstract

Multiple epiphyseal dysplasia (MED) is a congenital disorder of skeletal development that primarily affects the ends of long bones, causing progressive joint and bone inflammation and short stature. Mutations in several genes are responsible for pathogenesis of this disease. We are reporting a case of MED who presented with the complaints of multiple swelling of the joints which was associated with pain during movement for last seven years. The patient had flexion deformity of all the affected joints along with restriction of movement. These were associated with kyphosis, pectus carnitum, knock-knee and short stature. Radiological findings were suggestive of MED. Counseling was done with the parents regarding the etiology, progression and outcome of the disease.

DOI: http://dx.doi.org/10.3329/bsmmuj.v5i1.11025

BSMMU J 2012; 5(1):57-60

 

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Abstract
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PDF
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Published
2012-06-29
How to Cite
Islam, M., Begum, S., Talukdar, M., Karim, M., & Rahman, S. (2012). Multiple Epiphyseal Dysplasia (MED): A Rare Type of Skeletal Dysplasia. Bangabandhu Sheikh Mujib Medical University Journal, 5(1), 57-60. https://doi.org/10.3329/bsmmuj.v5i1.11025
Section
Case Reports