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Articles » Skeletal » Thanatophoric dysplasia » Thanatophoric dysplasia, Type I » Thanatophoric dysplasia, 3rd trimester

2000-04-23-18 Thanatophoric dysplasia, Type I © Navarro

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...

and humerus...

... the disproportionally large feet

and hand with short stubby fingers

The baby has frontal bossing

The chest is much smaller than the 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)

No craniosynostosis, thus this is a type I Thanatophoric dysplasia

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).

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

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

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