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Cerebral abnormalities in thanatophoric dysplasia

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Abstract

Neuropathologic evaluation of two infants with thanatophoric dysplasra displayed typical gross morphologic characteristics and a distinct pattern of brain malformations, including anomalies of the temporal lobe gyri and hippocampus, neuroglial heterotopias, fiber tract hypoplasia, and dysplasia of deep nuclei. Increased numbers of horizontal cells of Cajal-Retzius were striking in frequency and distrbution. The pattern of abnormalities suggests arrest of cerebral cortical ontogeny late in development. As with the mucopolysaccharidoses, a shared common metabolic pathway is a potential mechanism for development of widespread bony and somatic abnormalities and associated central nervous system anomalies.

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Author notes

  1. Cynthia L. Coulter

    Present address: Department of Neurology, Creighton University Medical Center, 601 North 30th Street, Suite 2342, 58131, Omaha, NE, USA

Authors and Affiliations

  1. Department of Neurology, University of Oklahoma College of Medicine, Oklahoma City, Oklahoma, USA

    Cynthia L. Coulter & Roger A. Brumback

  2. Department of Pathology, University of Oklahoma College of Medicine, Oklahoma City, Oklahoma, USA

    Richard W. Leech & Roger A. Brumback

  3. Department of Pediatrics, University of Oklahoma College of Medicine, Oklahoma City, Oklahoma, USA

    Roger A. Brumback & G. Bradley Schaefer

  4. Veterans Affairs Medical Center, Oklahoma City, Oklahoma, USA

    Roger A. Brumback

Authors
  1. Cynthia L. Coulter
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  2. Richard W. Leech
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  3. Roger A. Brumback
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  4. G. Bradley Schaefer
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Coulter, C.L., Leech, R.W., Brumback, R.A. et al. Cerebral abnormalities in thanatophoric dysplasia. Child's Nerv Syst 7, 21–26 (1991). https://doi.org/10.1007/BF00263828

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  • DOI: https://doi.org/10.1007/BF00263828

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