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An atypical form of mucolipidosis III
P Freisinger1, J C Padovani, P Maroteaux
1Hôpital des Enfants Malades, Paris, France.
Journal of Medical Genetics
|November 1, 1992
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.