Introduction: Progressive pseudorheumatoid dysplasia is an autosomal recessively inherited rare disorder with features of growth retardation, multiple joint deformities, and intra-articular loose bodies.
Case report: This case study is about a 34-year-old man who presented to us following trauma to his right leg. On general assessment, he was short statured with multiple deformities of both upper and lower limbs with local signs suggestive of proximal tibial fracture over his right tibia. Blood values indicated low Vitamin D levels with normal serum calcium and alkaline phosphatase, inclusive of the inflammatory markers. X-rays showed platyspondyly, decreased bone stock, and significant joint space narrowing in addition to the displaced proximal tibial meta-diaphyseal fracture. He was managed surgically and went on to have an uneventful post-operative period with fracture healing but with a need for further intervention in the future to address his associated secondary knee arthritis.
Conclusion: To share the morphometrics and presentation of this rare disease. And to highlight the role of psychological and rehabilitative therapy in improving the disease outcomes.
Keywords: Pseudorheumatoid; growth retardation; intra-articular loose bodies; multiple joint deformities; synovial chondromatosis.
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