An atypical form of mucolipidosis III.
Open Access
- 1 November 1992
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 29 (11) , 834-836
- https://doi.org/10.1136/jmg.29.11.834
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.Keywords
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