저자들은 25세초반부의 산전진찰시 Thanatophoric dwarfism이라고 사료되는 1례를 경험하였기에 간단한 문헌 고찰과 함께 보고하는 바이다.

Thanatophoric dwarfism is a short-limb dwarf condition which usually results in death shortly after birth, and for the first time, it was described by Maroteaux, Lamy, and Robert in 1967, who differentiated it from achondroplasia. We present one case of thanatophoric dwarfism which has been diagnosed during antenatal period with review of literatures.