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• W1997279958 abstract "Hereditary multiple exostoses is an autosomal dominant skeletal disorder with genetic heterogeneity and an estimated prevalence of 1/50,000 in western countries. Malignant degeneration is a rare (about 2%) but classical complication in patients with hereditary multiple exostoses. At least 3 loci identified as EXT 1, EXT 2 and EXT 3 are involved in this skeletal disease.The case of a 45-year old man is described with 15 years follow-up after resection of a well-differentiated chondrosarcoma (grade I), which arose from a right posterior pelvic exostosis. The observed radiological lesions remained relatively stable until now. The genetic mutation which is responsible for the disease was determined at the locus EXT 1.The present case report illustrates the natural history of hereditary multiple exostoses, especially since the patient underwent a malignant degeneration which could be resected without recurrence. The results of the genetic analysis contributed to the understanding of the pathophysiology of the disease." @default.
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• W1997279958 date "2002-07-01" @default.
• W1997279958 modified "2023-10-01" @default.
• W1997279958 title "Maladie des exostoses multiples après 40 ans d’évolution : à propos d’un cas" @default.
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• W1997279958 doi "https://doi.org/10.1016/s0248-8663(02)00628-8" @default.
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