Brain and bone abnormalities of thanatophoric dwarfism.
OBJECTIVE
The purpose of this article is to present the imaging findings of skeletal and brain abnormalities in thanatophoric dwarfism, a lethal form of dysplastic dwarfism.


CONCLUSIONS
The bony abnormalities associated with thanatophoric dwarfism include marked shortening of the tubular bones and ribs. Abnormal temporal lobe development is a common associated feature and can be visualized as early as the second trimester. It is important to assess the brains of fetuses with suspected thanatophoric dwarfism because the presence of associated brain malformations can assist in the antenatal diagnosis of thanatophoric dwarfism.
Miller
Elka
E
Department of Diagnostic Imaging, Hospital for Sick Children, Toronto, ON, Canada. millerel@hhsc.ca
Blaser
Susan
S
Shannon
Patrick
P
Widjaja
Elysa
E
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000196:embryology*; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D054220:Malformations of Cortical Development / Q000175:diagnosis*; D013796:Thanatophoric Dysplasia / Q000175:diagnosis* / Q000196:embryology*; D014057:Tomography, X-Ray Computed