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

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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.

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Acknowledgement

We wish to thank Dr. Christian Rickert for his significant contribution to the brain autopsy report.

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Authors and Affiliations

  1. Department of Medical Imaging, The Royal Children’s Hospital, Flemington Road, Melbourne, Victoria, 3052, Australia

    A. Michelle Fink

  2. Department of Anatomical Pathology, The Royal Children’s Hospital, Melbourne, Victoria, Australia

    Jessica Ng

  3. Department of Anatomical Pathology, The Royal Women’s Hospital, Melbourne, Victoria, Australia

    Jessica Ng

  4. Fetal Management Unit, The Royal Women’s Hospital, Melbourne, Victoria, Australia

    A. Michelle Fink, Tania Hingston, Amanda Sampson & Ricardo Palma-Dias

  5. Department of Radiology, The University of Melbourne, Melbourne, Victoria, Australia

    A. Michelle Fink

  6. Department of Obstetrics and Gynaecology, The University of Melbourne, Melbourne, Australia

    Ricardo Palma-Dias

Authors
  1. A. Michelle Fink
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  2. Tania Hingston
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  3. Amanda Sampson
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  4. Jessica Ng
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  5. Ricardo Palma-Dias
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Corresponding author

Correspondence to A. Michelle Fink.

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Fink, A.M., Hingston, T., Sampson, A. et al. Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings. Pediatr Radiol 40 (Suppl 1), 134–137 (2010). https://doi.org/10.1007/s00247-010-1697-4

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  • DOI: https://doi.org/10.1007/s00247-010-1697-4

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