Thanatophoric dysplasia, type I

Julio Navarro, MD

San Salvador, El Salvador C.A.

This is a 37 week fetus with Thanatophoric dysplasia. The mother is a G4P3 with no abnormal history.

Note the short limbs: femur...

femur

and humerus...

humerus

... the disproportionally large feet

foot

and hand with short stubby fingers

hand

The baby has frontal bossing

frontal bossing

The chest is much smaller than the abdomen

chest

chest-2

abdomen

And the spine demonstrates the typical platyspondyly (the thin vertebrae). Note how the space between vertebrae (the intervetebral disk and the non ossified portion of the cartilage of the vertebra) is thicker then the ossified parts of the vertebra (in white)

platyspondylia

No craniosynostosis, thus this is a type I Thanatophoric dysplasia

skull

The newborn: Note the frontal bossing, the low nasal bridge, upturned nose, very short arms and short fingers, and the narrow chest, responsible for the pulmonary insufficiency).

td-1

Side view with frontal bossing, low nasal bridge, low set ears.

td-3

Short limbs with redundant soft-tissues on a too short skeletal frame.

td-2

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