Published March 30, 2024
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Pycnodysostosis: A rare case report
- 1. Department of Orthopaedic Surgery and Traumatology II, Mohamed V Military Hospital, Faculty of Medicine and pharmacy, Mohamed V University, Rabat 10100, Morocco
- 2. Department of Neonatology, Children hospital of Rabat, Faculty of Medicine and pharmacy, Mohamed V University, Rabat 10100, Morocco.
- 3. Department of Orthopaedic Surgery and Traumatology II, Mohamed V Military Hospital, Faculty of Medicine and pharmacy, Mohamed V University, Rabat 10100, Morocco.
Description
Pycnodysostosis is a rare genetic disorder characterized by dense but brittle bones, short stature, and dental anomalies. This review summarizes the clinical presentation, genetic basis, diagnostic methods, and management strategies for pycnodysostosis. Early recognition and multidisciplinary care are crucial for optimizing outcomes and improving the quality of life for affected individuals. Further research into the pathophysiology of pycnodysostosis may lead to novel therapeutic approaches. We report a case of pycnodysostosis in a 23-year-old male sustaining a low energy right femoral shaft fracture.
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