Case report: Rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newborn

Abstract

Chondrodysplasia punctata is a peroxisomal disorder which is a form of multiple epiphyseal dysplasia. It is characterized by calcifications of unossified cartilaginous epiphyseal centers during the first year of life. Severe autosomal recessive rhisomelic form shows bilateral proximal shortening of the upper and lower limbs with punctate epiphyseal calcifications. We report radiological findings of a patient with rhisomelic chondrodysplasia punctata. Magnetic resonance imaging showed foramen magnum stenosis that caused spinal cord compression.