ABSTRACT
Objective To report a case of progressive pseudorheumatoid dysplasia (PPD) with two kinds of WISP3 gene mutation. Methods A case of PPD was reported. Its clinical profile and the process of diagnosis were analyzed, and the related literature were reviewed. Results A 15-years old boy, who developed progressive joint pain and enlargement with spine involvement, was diagnosed as PPD. The erythrocyte sedimentation rate and C-reactive protein were in normal range, rheumatoid factor and anti-CCP antibody were all negative. HLA-B27 was also negative. Gene study discovered two kinds of mutations in Wnt1-inducible signaling pathway protein 3 (WISP3) gene: c.589+2T＞C and c.624dupA. Radiographic studies revealed severe osteoporosis without erosion, platyspondylia, enlargement of metaphysis and scoliosis deformity. The joint space of sacroiliac joint and articulation of pubis were significantly widened. Conclusion PPD is a rare autosomal recessive disorder characterized by cartilage homeostasis. It is associated with WISP3 gene mutations. Gene detection, laboratory examination and typical radiographic features are helpful for the diagnosis. This is the first report of c.589+2T＞C and c.624dupA mutations in patients with PPD in our country.
ABSTRACT
Objective To investigate the experiences of total hip replacement in the treatment of different types of osteoarthritis secondary to acetabular dysplasia, and evaluate its effect. Methods From January 1999 to December 2006, 37 hips in 35 cases with osteoarthritis secondary to acetabular dysplasia undergoing total hip replacement were included in this study. Preoperative Harris score was 30-64 points, with an average score of 45 points. Undergoing total hip replacement with complete release, of soft tissue, original acetabular, and no femoral osteotomy. Crowe Ⅰ , Ⅱ-type acetabular dysplasia chose conventional cementless press-fit prosthesis;Crowe Ⅲ,Ⅳ-type,chose the appropriate trumpet,Zweymüller system cementless acetabular biconical spiral surface and thin and straight SL rectangular hip stems. Results The duration of follow-up ranged from 12 to 60 months (average 24 months). No case appeared dislocation, periprosthetic fractures, femoral nerve and sciatic nerve injury and other complications, no clinical and X-ray findings of prosthesis loosening occurred. Postoperative Harris score was 60-95 points, and average was 85 points. Conclusion Adequate preoperative preparation, intraoperative complete release, is the key of the treatment and restoration of limb length.