Prenatal Sonographic Dignosed Thanatophoric Dysplasia : Two Cases

Abstract

Thanatophoric dysplasia is a diseae which is characterized by short-extremites, bowed long bone, narrow thorax and relatively large cranium.

Short-limbs, hypoplastic lung and macrocrania are diagnostic features in prenatal sonographic findings.

Its radiographic features are markedly flattened vertebral bodies, flat squat pelvis and short bowed bones of the extremities with flaring and irregularity of the metaphyses.

Thanatophoric dysplasia, osteogenesis imperfecta, and achondrogenesis account for the vast majority of cases associated with lethal short-limbed dysplasia seen prenatally.

We have experienced two cases of thanatophoric dysplasia which has been diagnosed by prental ultrasound.