Mixed sclerosing bone dysplasia

Last revised by Francis Fortin on 10 Sep 2020

Mixed sclerosing bone dysplasia (MSBD) is a combined and highly variable bone sclerosing spectrum with shared features of 3 radiological entities:

Some authors propose these 3 conditions are within the same sclerosing spectrum 5. Little is known about this overlap dysplasia, which is proposed to be due to abnormal endochondral and intramembranous ossification. It may share an underlying etiology and loss of function mutations in the LEMD3 gene has been proposed 6.

It has features of all 3 components but is highly variable and its etiology may be inherited or sporadic.

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