Early Osteoarthritis and Osteoporosis Due to Spondyloepiphysial Dysplasia: A Case Report - Case Report

Spondyloepiphysial dysplasia (SED) is a rare diseases which causes delayed growth, short statue and involves the centre of the vertebral epiphysis. SED congenita and SED tarda are two different clinical forms of this disease. SED tarda with progressive arthropathy is another rare clinical appearance. SED is more frequently seen in male patients due to a genetic recessive transmission by chromosome X. The disease is characterized by a delay in the formation of epipysis, shortness of spine and extremities, kyphoscoliosis, coxa vara and platyspondily. In this case report we aimed to discuss an adolescent male SED tarda patient with early onset of osteoarthritis and osteoporosis, who was diagnosed as Scheuerman disease in the orthopedics clinic and treated with growth hormone for growth retardation in the pediatric endocrinology clinic. Important findings and labotatory investigation methods for diagnosis and treatment of this diasese will be outlined. (From the World of Osteoporosis 2009;15:79-82)