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 ...

"We have big dreams for her," says Brittany Kuper of her 18-month-old daughter Esther, who has thanatophoric dysplasia Wendy Grossman Kantor is an award-winning journalist who has contributed to ...

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 ...

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 ...

Skeletal dysplasia is the medical term for what many people refer to as dwarfism. It’s an umbrella term that includes hundreds of conditions that can affect your child’s bone and cartilage growth.