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Thanatophoric dysplasia with cloverleaf-skull

Case report and review of the literature

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Abstract

The radiologic and morphologic features of thanatophoric dysplasia with cloverleaf-skull could be demonstrated in a neonate who died from asphyxia shortly after birth. Occipital bone hemangiomatosis, a typical histomorphologic finding in cloverleaf-skull, is reported for the first time in a thanatophoric dwarf. Our investigations and the discussion of 26 observations of thanatophoric dysplasia with cloverleaf-skull reported since 1967 do not yet allow complete understanding of the pathogenetic relationship of both malformations. They serve, however, to elucidate some crucial unanswered questions which it is suggested should be studied in future observations of thanatophoric dysplasia with cloverleaf-skull.

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Authors and Affiliations

  1. Department of Pathology, University of Düsseldorf, D-4000, Düsseldorf, Federal Republic of Germany

    B. Kremens & F. Borchard

  2. Department of Pediatrics, University of Düsseldorf, D-4000, Düsseldorf, Federal Republic of Germany

    H. Kemperdick

  3. Department of Neuropathology, University of Düsseldorf, D-4000, Düsseldorf, Federal Republic of Germany

    U. G. Liebert

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  1. B. Kremens
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  2. H. Kemperdick
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  3. F. Borchard
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  4. U. G. Liebert
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Kremens, B., Kemperdick, H., Borchard, F. et al. Thanatophoric dysplasia with cloverleaf-skull. Eur J Pediatr 139, 298–303 (1982). https://doi.org/10.1007/BF00442186

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  • DOI: https://doi.org/10.1007/BF00442186

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