A case of pycnodysostosis presented with pathological femoral shaft fracture
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Osteosarcoma in the distal femur two years after an ipsilateral femoral shaft fracture: a case report
INTRODUCTION The duration of symptoms preceding a definitive diagnosis of osteosarcoma is quite long. Pathological radiological signs are often evident by the time of diagnosis. Although several case reports have been published on osteosarcoma of the femur, to the best of our knowledge this report is the first one with such an unusual clinical course. CASE PRESENTATION We describe the case of...
متن کاملPycnodysostosis: Report of a Case
Pycnodysostosis is a rare systemic bone disease whose cardinal features are generalized osteosclerosis and dwarfism. Characteristic skeletal defomities ensue, such as failure of closure of cranial sutures, obliquity of the mandibular angle, and defects of the terminal phalanges. This disease is suspected to be congenital heredity. In this report, a case of pycnodysostosis of a 20-year-old man w...
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This study aims to describe a rare and challenging case of a patient who presented ipsilateral subtrochanteric and distal femur fractures due to low-energy trauma. The peculiarity of this case is the presence of femoral shaft fracture malunion and knee disarticulation in the same limb resulting from an accident suffered 30 years ago. The patient underwent femoral diaphyseal osteotomy and fixati...
متن کاملA case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes
RATIONALE Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, craniofacial dysmorphism, acro-osteolysis, osteosclerosis, and brittle bone with poor healing. Pycnodysostosis results from the deficient activity of cathepsin K, a lysosomal cysteine protease that is encoded by CTSK. PATIENT CONCERNS We report a Korean adult patient with pycnodysostosis...
متن کاملTotal Hip Arthroplasty after Treatment of an Atypical Subtrochanteric Femoral Fracture in a Patient with Pycnodysostosis
The authors describe the case of a 51-year-old woman with an osteonecrosis of her right femoral head after treatment of an atypical subtrochanteric fracture caused by pycnodysostosis. She had this fracture after a low-trauma fall. She was of short stature with typical facial features, short stubby hands, and radiological features including open cranial sutures, obtuse mandible, and generalized ...
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