Orthopaedic manifestations of mucolipidosis III: an illustrative case.

Abstract

The musculoskeletal manifestations of mucolipidosis III include short stature, claw hands, carpal tunnel syndrome, and limited joint mobility. This article presents a series of complex orthopaedic problems, including avascular necrosis of the talus, encountered in one such patient whose presentation had initially given the impression of a mild form of the disease.