Thanatophoric dysplasia

Thanatophoric dysplasia is a common etiology of fetal dysplasia, which is characterized by micromelia, macrocephaly, and narrow thorax. Prenatal disorders of the development of the fetus can already be recognized:

In the first trimester ultrasound shows a shortening of the long bones, in the second trimester there is a strong growth restriction, as well as macrocephaly and an enlarged ventricle. Other disorders are curved femur bones, cloverleaf skulls, and a hydramnion.

The reason for the disease is a mutation in the fibroblast growth factor-receptor 3 gene, which among other things is responsible for bone development. The gene is inherited autosomal dominant. The prognosis is very poor. Most patients die intrauterine or shortly after birth.