Thanatophoric dysplasia is also known as lethal skeletal dysplasia, thanatophoric dwarfism, and lethal osteochondrodysplasia.
Thanatophoric dysplasia is a lethal skeletal dysplasia due to mutation of fibroblast growth factor receptor 3 gene (FGFR3).
- long bones severely affected; micromelia is present; may have prominent bowing
- ossification is normal and no evidence of fractures (differential of osteogenesis imperfecta)
- relatively normal shaped head; may be macrocephalic and may have midline hypoplasias
- small narrow thorax due to short ribs, which leads to hypoplastic lungs and abnormal cardiothoracic ratio
- heart, spine and abdomen are normal