Abstract
We report a case of Perthes like changes in the rare disorder of Geleophysic dysplasia and add it to the world literature (24 cases). We found an increased incidence of Perthes at 12% (3/25). Geleophysic dysplasia is characterised by short stature with short limbs distally, normal intelligence, joint stiffness, hepatomegaly and happy facial characteristics. The disease has the clinical and histological appearance of a mucopolysaccharidosis. Perthes changes were seen at the age of 4 years and treated conservatively, with poor clinical results despite the early onset and reasonable radiological improvement. MRI scans of the affected hip did not show any unusual features that differentiate it from normal Perthes disease. The patient also developed carpal tunnel syndrome, which has been seen in with increasing frequency in mucopolysaccharidoses such as Hurlers syndrome, but has not been associated with Geleophysic dysplasia before.
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