Thanatophoric dysplasia, type I

Francesco Contarin, MD, Mayra León, MD

Venezuela

This is a 25-week fetus with Thanatophoric dysplasia, type I. Note the short limbs, the redundant soft-tissues and the platysplondyly.

The short limbs (humerus and femur) and disproportionally large foot.

The redundant soft-tissues:

The small chest cavity compared to the abdomen

The platysplondyly.

The baby after delivery.

The X-ray (note the platysplondyly).

Normal karyotpe

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