Abstract

A case of spondyloepiphyseal dysplasia congenita is presented here in a seven-year-old male with lumbar lordosis, flat face, short neck, pectus carinatus, waddling gait and characteristically normal hands and feel. Radiological findings included retarded bone age, generalized osteopenia and metaphyseal disorganization with widening of metaphysis with sclerotic and radiolucent areas and stippled calcifications in epiphysis and metaphysis. Characteristically femur and tibia were short with metaphyseal irregularities appearing in the distal femur. Magnetic Resonance Imaging (MRI) revealed hyper intense metaphysis and epiphysis of ulna and radius and in bone scanning, elbows, hips and ankles revealed less epiphyseal activity than expected for the chronological age.