A Case of Thanatophoric Dwarfism

A case of thanatophoric dwarfism is presented. The previous gestation was polyhydramniotic and aborted spontaneously at 19th week. The aborted fetus showed marked micromelia. Present gestation was also polyhydramniotic and terminated by therapeutic abortion at 31th weeks due to skeletal deformity representing thanatophoric dwarfism. The fetus shows typical characteristics of thanatophoric dwarfism. Grossly the fetus shows marked micromelia, narrowed thorax with relatively normal length of trunk, and enlarged head. In the radiograph the femur shows characteristic ‘ telephone receiver’-like form. And the histological observations shows marked disturbances of the endochondral ossification.