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. 1992 Nov;29(11):834–836. doi: 10.1136/jmg.29.11.834

An atypical form of mucolipidosis III.

P Freisinger 1, J C Padovani 1, P Maroteaux 1
PMCID: PMC1016184  PMID: 1453439

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.

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Selected References

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