Thanatophoric dysplasia of identical twins

The autopsy cases of thanatophoric dysplasia of identical female twins were reported. These babies showed short limbs, long and narrow thoraxes, and depressed nasal roots. Disorganization of endochondral ossification and hypertrophic periosteum were recognized histologically at the epiphyseal plate of femur. The cause of death was respiratory distress caused by hypoplastic and atelectatic lungs. Their mother had no complaints except hydramnios. Female identical twins of this disease are very rare. It could be considered that the disease would be induced by some genetic disorders occurring at the earliest developmental stage.