The distinction is important because the prognosis of spondyloepiphyseal dysplasia and epiphyseal dysplasia Type I 10 is worse compared with Perthes’ disease 37 and the indication for therapeutic intervention is more guarded. 1,32 Nevertheless, measures to improve mobility can become necessary as in Patient 2 with multiple epiphyseal dysplasia in the current study. If increasing movement deficits develop despite intensive physiotherapy, the authors try initially to improve the ROM (especially abduction and internal rotation) by inpatient physiotherapy. If this is not successful, the authors regard this, as with Perthes’ disease, as an indication for more aggressive management with mobilization under anesthesia and arthroscopic mobilization, if necessary. If abduction has been achieved successfully, a plaster bed in maximum abduction is made and physiotherapy is continued for several days under epidural anesthesia. 16
Small stature, platyspondylia, symmetric radiologic changes in the hips, and changes in the end-plates of long bones suggest the diagnosis of spondyloepiphyseal dysplasia. 13 Distinction from mucopolysaccharidosis Type IV (Morquio’s syndrome) and pseudoachondroplasia is difficult, as there are similar changes in the spine. The presence of flat oval vertebral bodies is characteristic. 18,28 According to Maroteaux and Lamy 23 the anterior tongue-shaped projections of the vertebral bodies are typical changes. These can be explained by the defective development of the ring apophyses and recall Morquio’s disease primarily. 26 Morquio-Brailsford disease initially was classified as intermediate spondyloepiphyseal dysplasia. After increased keratosulfate excretion in the urine was found in this syndrome, it was assigned to the mucopolysaccharidoses. 20 The biochemical finding of keratosulfate in the urine attributable to a lysosomal defect is regarded as the most important differential diagnostic criterion for identifying Type IV mucopolysaccharidosis. 3,26 The normal development of the teeth, the mandible, the ribs, and the sternum, and the absence of hepatomegaly and kyphoscoliosis argue against the presence of Morquio syndrome. 13
The most important evidence for the presence of pseudoachondroplasia, apart from shortening of the torso and the limbs, is coarseness of the hands and feet, massive ligament laxity associated with genua vara and recurvata, instability of the ankles, and the marked pes plano-valgus. 23 Pseudoachondroplasia also can be distinguished successfully from spondyloepiphyseal dysplasia tarda because of the time that the illness appears and because of the fact that a short torso develops with less limb shortening. 13,22,28
In individual case reports of spondyloepiphyseal dysplasia, retinal detachment, myopia, cataract, and isolated cases of impaired hearing have been reported. The causes for this have not been elucidated. 21,28 An association of spondyloepiphyseal dysplasia with nephrotic syndrome with proteinuria, hypoalbuminemia, hypercholesterolemia, and edema also was observed. 9
In individual cases, multiple epiphyseal dysplasia is associated with progressive arthropathy. The first symptoms in the form of joint symptoms and finger swelling occur in childhood, suggesting a diagnosis of juvenile chronic arthritis. When epiphyseal dysplasia is present, the typical radiologic alterations of rheumatoid arthritis (erosions, periosteal reactions) will not be evident; clinically, there is no joint swelling attributable to synovitis, and morning stiffness and inflammatory joint pains also are absent. 5,13
Other diseases, such as achondroplasia, diastrophic dwarfism, Pfaundler-Hurler’s disease, hemimelic epiphyseal dysplasia, and punctate hemimelic dysplasia can be distinguished from the described syndromes on the basis of the characteristic clinical appearance, the radiologic findings, and the laboratory investigations.
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