title: Brain and bone abnormalities of thanatophoric dwarfism.
abstract: 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.
authors.affiliation: Department of Diagnostic Imaging, Hospital for Sick Children, Toronto, ON, Canada. millerel@hhsc.ca
authors.forename: Elka
authors.initials: E
authors.lastname: Miller
authors.forename: Susan
authors.initials: S
authors.lastname: Blaser
authors.forename: Patrick
authors.initials: P
authors.lastname: Shannon
authors.forename: Elysa
authors.initials: E
authors.lastname: Widjaja
mesh_terms: 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