Thanatophoric Skeletal Dysplasia , Robert Francis Whelan

Jakobi

Jakobi is such a happy baby. He is very moody as well. He gives me a lot of attitude when he doesn't want to do something. He is the boss.

~Ashequka, Jakobi’s Mom Thanatophoric Skeletal

Dysplasia Thanatophoric dysplasia

Dysplasia Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra 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. Most infants with thanatophoric dysplasia are stillborn or die shortly after birth from respiratory failure. A few affected individuals have survived into childhood with extensive medical help.

Artist: Robert Francis Whelan

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