A constellation of orthopaedic deformities in connection with cartilage oligomeric matrix protein mutation.

African journal of paediatric surgery : AJPS(2019)

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摘要
: The value of presenting this article is fourfold; first to signify that mutation study was essential for the increment of knowledge related to the genotype-phenotype relationships. Second, to indicate that professional awareness is needed to differentiate between the hidden pathologies in patients with Perthes-like deformity, genu varum, genu valgum and early osteoarthritis in correlation with COMP gene mutation. Third, it is mandatory to question the validity of the term idiopathic. Fourth, this article is an attempt to sensitise orthopaedic physicians and surgeons that deformities might be stemmed from diverse forms of intrinsic bone disorders.
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关键词
Cartilage oligomeric matrix protein mutation,orthopaedic deformities,surgery
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