저자들은 30세 경산부의 산전진찰시 양수과소증과 동반된 Thanatophoric dysplasia이라고 사료되는 1례를 경험하였기에 간단한 문헌고찰과 함께 보고하는 바이다.

Thanatophoric dysplasia is a disease which is charaterized by extreme rhizomelia, bowed long bone, narrow thorax, and relatively large cranium. The incidence rate is 0.69 per 10,000 births, the most common from of fatal neonatal skeletal dysplasia. We experienced a case of fetal dwarfism on antenatal ultrasound examination and then the baby was delivered by cesarean section. The diagnosis was confirmed to thanatophoric dwarfism by clinical features, radiological findings. We reported a case of thanatophoric dwarfism with review of literature.