Thanatophoric dysplasia, type I

Luiz Eduardo Machado, MD

Intro, Centro de Treinamento em Diagnóstico por Imagem, Salvador – Bahia – Brasil

This is 3rd trimester fetus with Thanatophoric dysplasia, type I. Note the frontal bossing, micromelia, short stubby digits and normal calvarium.

The hypoplastic chest

The newborn:

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