抄録
Chondrodysplasia punctata is a rare congenital bone disease. The disease includes shortening of the extremities, nanism, and skin or eye disorders. The diagnostic radiographic feature is punctate-calcified shadows in the epiphyses, called “stippled epiphyses”, due to disturbance of intracartilage ossification.
A case of chondrodysplasia punctata was encountered which is Conradi-Hunermann type. A female neonate, born at 38 weeks gestational age weighing 2436g, had skin abnormalities with squama, erythema, and erosion. She also had asymmetrical shortening of the extremities, and facial abnormalities with a flat face and saddle-like nose. Radiographs revealed punctate calcification in the epiphyses of the humerus, carpus, and tarsal bones. The skin lesion disappeared completely four months after birth, and the punctate ossification tends to disappear gradually. We report the case with review of the literature.
