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.
The primary cause is a mutation in the fibroblast growing factor receptor 3 gene, which is responsible, inter alia, for bone development. The gene is inherited autosomal dominant. The prognosis is very poor: most patients die intrauterine or shortly after birth.