An atypical form of mucolipidosis III.
نویسندگان
چکیده
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.
منابع مشابه
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 29 11 شماره
صفحات -
تاریخ انتشار 1992