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

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

Keywords

• Multiple epiphyseal dysplasia
• Flexion deformity