Thanatophoric Dysplasia Life Expectancy. The skeletal dysplasia is characterized by brachydactyly (in all 6); Caused by mutation in the fgfr3 gene;
Caused by a mutation in the slca26a2 gene; Individuals are of normal intelligence and may have a normal lifespan. Some lethal types of skeletal dysplasia, such as thanatophoric dysplasia, type 2, have unique shaped skulls.
Dwarfism, bonydysplasia
The five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. Clinical description characteristic morphological features are seen on prenatal ultrasounds. Infants with thanatophoric dysplasia are usually stillborn or die shortly after birth from respiratory failure; A vaginal birth is extremely dangerous and potentially life threatening for a baby with oi, as it puts a lot of pressure on the baby’s bones as it is being delivered.
