Thanatophoric dysplasia, type II

Meyer Serrano, MD

Perinatology unit, Villavicencio, Meta, Colombia

This is a 27-week-old fetus with thanotophoric dysplasia Type II.

Normal nose and lips.

Frontal bossing.

Cloverleaf skull.

Distended ventricles

Prominent temporal bones.

Comparison of transverse section of the chest and abdomen.

Narrow chest. Sagital scan.

Unilateral pyelectasis

The upper and lower limbs

The newborn.

Note the skull shape.

X-ray after birth. Note the H-shaped vertebrae, the short and bowed femur and narrow chest.

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