Spondyloepiphyseal Dysplasia Tarda in Twins

Introduction: Spondyloepiphyseal dysplasia (SED) is a genetically heterogeneous disorder often associated with the early onset of osteoarthrosis. The X-linked recessive form (SEDL) affects boys and is characterized by reduced height, arm span exceeding total height, and barrel chest deformity. The radiographic phenotype comprises a hump-shaped deformity of vertebral bodies and mild epiphyseal dysplasia of the femoral head associated with early signs of hip arthrosis.The disorder is caused by mutations in the SEDL (or sedlin) gene on Xp22.12-p22.31. SED should be kept in mind as a differential diagnosis in men with early “primary” bilateral osteoarthrosis.Case Report: Here, 11 years old twins diagnosed as SED due to walking disability, limitation of joint motion, pain at the hips and disability in standing for a long time were presented. Discussion: This rare skelatal dysplasia must be kept in mind in patients with painful spine and hip joints, and walking disability. (Jo-ur-nal of Cur-rent Pe-di-at-rics 2011; 9: 97-9)