저자들은 본 병원 산부인과에서 양수과다를 동반한 경산부에서 분만 직후 사망한 thanatophoric dysplasia를 경험하였기에 문헌고찰과 더불어 보고하는 바이다.

Thanatophoric dysplasia is a disease which is characterized by extreme rhizomelia, bowed long bone, narrow thorax, and relatively large cranium, such that the incidence rate is 0.69 per 10,000 births, the most common form of skeletal dysplasia. Short-limbed dwarfism, hypoplastic lung, and cloverleaf skull are diagnostic aids in the aspect of antenatal ultrasonographic finding. Recently, we have experienced a case of thanatophoric dysplasia and report with a review of literature.