Thanatophoric dysplasia, type I

Fernando Heredia, MD

Hospital Regional de Concepci?n ā€œGuillermo Grant Benaventeā€, Concepci?n, Chile

This is a term fetus with Thanatophoric dysplasia, type I. Note the micromelia, hypoplastic thorax, the redundant soft-tissues giving the impression of "pseudo-edema" and the simian crease due to the lack of flexion of the hand.

photo 1

photo 2

hand

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