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Research Article
An atypical form of mucolipidosis III.
  1. P Freisinger,
  2. J C Padovani,
  3. P Maroteaux
  1. Hôpital des Enfants Malades, Paris, France.

    Abstract

    We report two sibs showing a very mild form of mucolipidosis III with no clinical signs but isolated involvement of the hip and very mild abnormalities of the spine. This indicates that a storage disease, in particular mucolipidosis III, should be considered in any case of isolated bilateral hip dysplasia. The differences from other reported atypical variants of mucolipidosis III are discussed.

    https://doi.org/10.1136/jmg.29.11.834

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