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Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage

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Journal of Inherited Metabolic Disease

Abstract

A family is described in which two sibs of a consanguineous marriage have alopecia, convulsions, EEG anomalies and mental retardation. Although the children have significant features resembling those described by Moynahan, this syndrome appears to be different in the mode of inheritance and in other aspects (sensorineural hearing loss in the male, syndactyly in the female).

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Authors and Affiliations

  1. Department of Neurology, University of Bari, Italy

    T. Perniola & G. Krajewska

  2. Department of Pediatrics, University of Bari, Italy

    F. Carnevale

  3. Department of Dermatology, University of Bari, Italy

    M. Lospalluti

Authors
  1. T. Perniola
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  2. G. Krajewska
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  3. F. Carnevale
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  4. M. Lospalluti
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Perniola, T., Krajewska, G., Carnevale, F. et al. Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage. J Inherit Metab Dis 3, 49–53 (1980). https://doi.org/10.1007/BF02312522

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  • DOI: https://doi.org/10.1007/BF02312522

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