Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disease characterized by symmetrical shortening of the proximal extremities, congenital contractures, bilateral cataract, saddle nose, severe mental and growth retardation and the presence of epiyphyseal stippling. RCDP was assigned to the peroxisomal disease category after discovery of an impaired plasmalogen (ether phospholipid) synthesis. Here, we present a 3-month-old infant who manifested the characteristic clinical and radiological findings of rhizomelic type chondrodysplasia punctata.

Keywords: katarakt, kondrodisplazi punktata, peroksizom, rizomelik kondrodisplazi punktata, cataract, peroxisome, rhizomelic chondrodysplasia punctata