Nonrhizomelic Type of Chondrodysplasia Punctata Suspected in the Brothers

ABSTRACT

Chondrodysplasia punctata is a heterogenous skeletal dysplasia characterized by small focal calcifications in articular and other cartilages in infancy, with subsequent epiphysial dysplasia and associated anomalies of the face, eyes, and skin. Chondrodysplasia punctata is classified with autosomal recessive rhizomelic type, autosomal dominant nonrhizomelic type(Conradi-Hunermann type), and X-linked dominant type. These types have different clinical manifestations respectively. We report cases of autosomal dominant type of chondrodysplasia punctata which occurred in brothers, who were presented with typical face(short collumella leading to depressed tip of the nose), punctate calcification on the lumbar spine, dislocation of right hip, no obvious skin lesions, and atropic optic nerve without cataracts.