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Radiographic features of fucosidosis

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Abstract

Fucosidosis is an uncommonly recognized lysosomal storage disease which presents with psychomotor deterioration and progressing in some cases to death. The roentgenographic findings in five boys from three families are described. Skeletal abnormalities of a dysostosis multiplex nature are present and though not diagnostic should direct the clinician to perform appropriate biochemical and tissue assay studies to establish the diagnosis.

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Authors and Affiliations

  1. Department of Radiology, Children's Hospital of Los Angeles, P. O. Box 54700, 90054, Los Angeles, California, USA

    F. A. Lee & J. L. Gwinn

  2. Department of Pediatrics, Children's Hospital of Los Angeles, Los Angeles, California, USA

    G. N. Donnell & J. L. Gwinn

  3. University of Southern California School of Medicine, Los Angeles, California, USA

    F. A. Lee, G. N. Donnell & J. L. Gwinn

Authors
  1. F. A. Lee
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  2. G. N. Donnell
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  3. J. L. Gwinn
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Lee, F.A., Donnell, G.N. & Gwinn, J.L. Radiographic features of fucosidosis. Pediatr Radiol 5, 204–208 (1977). https://doi.org/10.1007/BF00972177

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