Acta Neuropathologica

, Volume 63, Issue 3, pp 218–228 | Cite as

Neuropathologic findings in thanatophoric dysplasia

  • K. -L. Ho
  • C. -H. Chang
  • S. Samuel Yang
  • J. L. Chason
Original Works

Summary

Neuropathologic study of eight cases of thanatophoric dysplasia (dwarfism) reveals developmental abnormalities including hypoplasia of posterior fossa, megalencephaly, cerebral gyral disorganization, hippocampal malformation, neuronal heterotopia, nuclear dysplasia, and abnormal axonal bundles. There are no noticeable differences in CNS abnormalities between thanatophoric dysplasia with and without cloverleaf skull (Kleeblattschädel). The CNS abnormalities, likely the result of abnormal neuronal migration and cytoarchitectonic disarrangement, are apparently not caused by skeletal abnormalities. The observation suggests that CNS abnormalities represent a characteristic and distinct manifestation of thanatophoric dysplasia.

Key words

Thanatophoric dysplasia (dwarfism) Cloverleaf skull (Kleeblattschädel) Hippocampal malformation Neuronal migration Neuronal heterotopia Neuropathologic findings 

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Copyright information

© Springer-Verlag 1984

Authors and Affiliations

  • K. -L. Ho
    • 1
  • C. -H. Chang
    • 2
  • S. Samuel Yang
    • 3
  • J. L. Chason
    • 1
  1. 1.Dept. of PathologyHenry Ford HospitalDetroitUSA
  2. 2.Dept. of Pathology, Children's Hospital of MichiganWayne State University School of MedicineDetroitUSA
  3. 3.Dept. of PathologyWilliam Beaumont HospitalRoyal OakUSA

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