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Mental retardation syndrome with renal concentration deficiency and intracerebral calcification

  • Medical Genetics
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Abstract

Two siblings are reported with a unique association of nephrogenic diabetes insipidus, intracerebral calcifications, defective psychomotor development, dwarfism and peculiar facial appearance. The disorder is to be differentiated from similar disorders, notably the Cockayne syndrome.

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Abbreviations

ADH:

antidiuretic hormone

CT:

computed tomography

NDI:

nephrogenic diabetes insipidus

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Authors and Affiliations

  1. Department of Paediatrics, Universitätskliniken, Langenbeckstrasse 1, D-6500, Mainz 1, Federal Republic of Germany

    O. Schofer, R. Beetz & J. Spranger

  2. Department of Neuropathology, Universitätskliniken, Langenbeckstrasse 1, D-6500, Mainz 1, Federal Republic of Germany

    J. Bohl & A. Bornemann

  3. Taunusklinik, Falkenstein, Federal Republic of Germany

    J. Oepen

Authors
  1. O. Schofer
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  2. R. Beetz
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  3. J. Bohl
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  4. A. Bornemann
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  5. J. Oepen
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  6. J. Spranger
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Schofer, O., Beetz, R., Bohl, J. et al. Mental retardation syndrome with renal concentration deficiency and intracerebral calcification. Eur J Pediatr 149, 470–474 (1990). https://doi.org/10.1007/BF01959397

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  • DOI: https://doi.org/10.1007/BF01959397

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