Rhizomelic chondrodysplasia punctata is a rare peroxisome biogenesis disorder that is inherited in an autosomal recessive manner. Herein, we present an infant suffering from difficulty moving her extremities, who also had some dysmorphic features such as saddle nose, prominent forehead, bilateral cataracts, and distinct shortness of proximal extremities. Punctate calcifications on the epiphyses of the humeri and femora and coronal clefts of the vertebrae were present radiographically. This patient was diagnosed with rhizomelic chondrodysplasia punctata, and had characteristic clinical and radiological findings.

Keywords: rizomelik kondrodisplazi punktata, yenidoğan.