Pediatric Radiology

, Volume 40, Supplement 1, pp 134–137

Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings

  • A. Michelle Fink
  • Tania Hingston
  • Amanda Sampson
  • Jessica Ng
  • Ricardo Palma-Dias
Case Report

DOI: 10.1007/s00247-010-1697-4

Cite this article as:
Fink, A.M., Hingston, T., Sampson, A. et al. Pediatr Radiol (2010) 40(Suppl 1): 134. doi:10.1007/s00247-010-1697-4

Abstract

We present a case in which the unusual cerebral malformations of thanatophoric dysplasia (TD) were identified on a 21-week fetal US and confirmed by antenatal MRI, postmortem imaging and autopsy. TD is the most common lethal skeletal dysplasia and is characterized by short long bones, which are often bowed (type 1), a small thorax, and skull deformities. There is also a recognised constellation of abnormalities of the brain primarily affecting the temporal lobes that, although well described in the postmortem setting, are not widely recognized in fetal imaging. Familiarity with this appearance will facilitate accurate antenatal diagnosis.

Keywords

Thanatophoric dysplasia Fetal MRI Fetal US Brain malformation Postmortem 

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • A. Michelle Fink
    • 1
    • 4
    • 5
  • Tania Hingston
    • 4
  • Amanda Sampson
    • 4
  • Jessica Ng
    • 2
    • 3
  • Ricardo Palma-Dias
    • 4
    • 6
  1. 1.Department of Medical ImagingThe Royal Children’s HospitalMelbourneAustralia
  2. 2.Department of Anatomical PathologyThe Royal Children’s HospitalMelbourneAustralia
  3. 3.Department of Anatomical PathologyThe Royal Women’s HospitalMelbourneAustralia
  4. 4.Fetal Management UnitThe Royal Women’s HospitalMelbourneAustralia
  5. 5.Department of RadiologyThe University of MelbourneMelbourneAustralia
  6. 6.Department of Obstetrics and GynaecologyThe University of MelbourneMelbourneAustralia

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