An atypical form of mucolipidosis III.
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.
Freisinger
P
P
Hôpital des Enfants Malades, Paris, France.
Padovani
J C
JC
Maroteaux
P
P
D002648:Child; D005260:Female; D006621:Hip Joint / Q000002:abnormalities; D006801:Humans; D008297:Male; D009081:Mucolipidoses / Q000145:classification / Q000235:genetics*; D010384:Pelvic Bones / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities