What is Thanatophoric Dysplasia?

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Thanatophoric dysplasia is Latin for “death bearing malformation.” It is a skeletal disorder and a most severe form of dwarfism. Infants born with this condition are usually stillborn or die from respiratory failure shortly after birth.

There are two types of Thanatophoric Dysplasia: Type I is characterized by abnormally small limbs (micromelia) with bowed femurs and, uncommonly, the presence of cloverleaf skull deformity (kleeblattschaedel) of varying severity. Type II is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe cloverleaf skull deformity.

Features of Thanatophoric Dysplasia include enlarged head (macrocephaly) with large forehead and prominent, wide-spaced eyes, narrow bell-shaped thorax, normal trunk length, and severe shortening of the limbs. Other features of this condition include a narrow chest, short ribs, and underdeveloped lungs.

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