Thanatophoric dysplasia
Definition
Thanatophoric dysplasia is one of the most common and most severe forms of dwarfism. Affected infants have marked shortening of their arms and legs, a small chest, and a relatively large head. Most die within a few days after birth; longer-term survivors have been reported but are rare.
Description
Thanatophoric dysplasia (TD) was first described in 1967 to refer to infants with a severe form of dwarfism who died within the first hours of life. The word "thanatophoric" is derived from the Greek word, thanatophorus, which means "death-bringing." The term thanatophoric dwarfism is occasionally used. However, over time, the word dysplasia, which refers to any disorder in growth, has become the...
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