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Neuropathologic findings in thanatophoric dysplasia

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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.

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Authors and Affiliations

  1. Dept. of Pathology, Henry Ford Hospital, 2799 West Grand Blvd., 48202, Detroit, MI, USA

    K. -L. Ho & J. L. Chason

  2. Dept. of Pathology, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI, USA

    C. -H. Chang

  3. Dept. of Pathology, William Beaumont Hospital, Royal Oak, MI, USA

    S. Samuel Yang

Authors
  1. K. -L. Ho
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  2. C. -H. Chang
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  3. S. Samuel Yang
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  4. J. L. Chason
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Ho, K.L., Chang, C.H., Yang, S.S. et al. Neuropathologic findings in thanatophoric dysplasia. Acta Neuropathol 63, 218–228 (1984). https://doi.org/10.1007/BF00685248

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  • DOI: https://doi.org/10.1007/BF00685248

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