저자들은 산전초음파상 임신 21＋3주에 쌍태아임신에서 Thanatophoric dysplasia로 진단 후 치료적 중절 수술하여 임상적, 방사선학적 및 병리조직학적으로 최종 진단하였던 1예를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

We present male monozygotic twin with thanatophoric dysplasia type I concordant for long bone abnormalities and narrow thorax without cloverleaf skull. The diagnosis was made at 21weeks 3days` gestation. Prenatal diagnosis and postmortem examination showed severe micromelia, bowed long bones with "telephone-receiver" shapes and narrow thorax with short ribs in both twin. Finally it was confirmed by radiologic and pathologic examinations. The case will be presented in more details with a brief review of literature.