Atypical Spondylo-Epiphyseal Dysplasia in an Adult Male Patient

Spondylo-epiphyseal dysplasia is a genetic disorder, resulting in the dysfunction of type II collagen (the major collagen of cartilage). We present a 17-year-old male with a history of mechanical pain predominantly in the lumbar spine and joints of the lower extremity for one year, who was previously diagnosed with and treated for spondylo-arthropathy, with normal laboratory test results but severe radiographic abnormalities in the form of generalized osteoarthritis of pelvic and knee joints. The patient was a case of late-onset spondylo-epiphyseal dysplasia.