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Thanatophoric Dysplasia

Posted in Obstetric Ultrasound on December 02, 2013 by m.khodeer

Thanatophoric Dysplasia
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Image from a fetus with Thanatophoric Dysplasia shows a cloverleaf skull ( = Kleeblattschadel), with frontal bossing (arrows) and lateral protrusion in the region of the temporal lobes (arrowheads)

Skull abnormality, through somewhat characterstic, only seen in 14%

  • More commonly polyhydramnios (71%), extremely small thorax

DDX: fetal demise, with overlapping skull fragments, can appear similar

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