Thanatophoric dysplasia (TD) is an intractable disease with abnormalities of bones and the brain. Because of experimental difficulties, its pathophysiology is largely unknown. In this study, by ...

"We love her little smile." A baby who was born with a rare form of dwarfism is now home after spending the first six months of her life in the hospital. Paisley Courson was born with a severe ...

Thanatophoric dysplasia (TD) is an intractable disease designated by Ministry of Welfare, Health and Labor (MWHL) of Japan, causing severe abnormalities of bones and the brain. The limb and rib bones ...

Nearly four years ago, Ashequka Lacey was faced with a decision that would change her life completely. She was 20 weeks pregnant with her second child and was about to learn the baby's gender when the ...

Scientists have generated induced pluripotent stem cells (iPSCs) from fibroblasts of patients with thanatophoric dysplasia or achondroplasia, two types of skeletal dysplasia, and recapitulated the ...

You have full access to this article via your institution. Polyhydramnios usually develops in the second and third trimesters. Death usually occurs within hours or days after delivery from respiratory ...

MOORHEAD — A fighter since day one, Esther Kuper is one of just a handful in the world with a condition called thanatophoric dysplasia, a severe skeletal disorder. Esther is also the daily bright spot ...

Many medical conditions can cause short stature, but a faulty gene encoding the protein FGFR3 is responsible for two-thirds of all forms of dwarfism in humans. FGFR3 normally controls a brake signal ...