Tuesday, December 20, 2016

Medipicsowesome: Thanatophoric dysplasia


First post of Medipicsowesome. Yaay!

Thanatophoric dysplasia (TD) is a lethal skeletal dysplasia. It is the 2nd most common lethal skeletal dysplasia after osteogenesis imperfecta type II.

It is characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs.

Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.

Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly).

Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.

This baby seems to have type II thanatophoric dysplasia.

The condition is uniformly fatal within a few hours of birth either from respiratory failure or from brainstem compression from a narrow foramen magnum.

This baby died a few hours after birth.

Cool fact: The term thanatophoric derives from the Greek words "thanatos" meaning "death" and "foros" meaning "bearing/carrying/bringing".

That's all!

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