Prenatal imaging of thanatophoric dysplasia: a case report

ABSTRACT

Thanatophoric dysplasia is the most common lethal congenital chondrodysplasia with characteristic features of narrow thorax, short rib, severe platyspondyly, short bowed limbs and skull deformity, etc. It is not a hereditary disorder and there is usually no family history of dysplasia. We experienced a case of thanatophoric dysplasia at 38 weeks of gestation with antenatal sonographic and abdominal radiographic findings of small thorax, short bowed extremities with surrounding thickened soft tissues and marked platyspondyly. Soon atter delivery, the baby died and post-mortem radiographs showed the characteristic findings of thanatophoric dysplasia.