Rhizomelic chondrodysplasia punctata is characterized by chondrodysplasia punctata (CDP), ichthyosis, cataracts, and rhizomelic or rhizomesomelic short stature. CDP is the hallmark of the disease, characterized by abnormal punctate calcifications in the dystrophic epiphyseal cartilages, as well as other cartilagenous structures. The disorder belongs to a rare group of skeletal dysplasias, and the incidence is reported to be 1 per 100,000 live births. Two other patients have been reported from Turkey before. Our patient is the first report of a case with chondrodysplasia punctata with hypospadias.

Keywords: kondrodisplazia punktata, hipospadias, katarakt, lateral ventrikül dilatasyonu, chondrodysplasia punctata, hypospadias, cataracts, dilatation of lateral ventriculus.