Thanatophoric dysplasia, type I

Luís Flávio Gonçalves, MD

Clinica Materno-Fetal, Florianópolis and UNIVALI - Universidade do Vale do Itajaí, Itajaí Brazil

This is a third trimester fetus with Type I Thanatophoric dysplasia.

The face (note the frontal bossing and low nasal bridge).

tanatoface
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tanatoface01
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The narrow chest (note the ends of the ribs on the lateral wall).

tanato4ch

The limbs

tanatoleftleg3d
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The humerus.

tanatobraco
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The femur.

tanatofemur
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The hands

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The foot

tanatofoot

The spine (not very marked platyspondyly)

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and the very narrow chest

tanatothorax02

The X-ray after birth

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