|ECR 2019 / C-2905|
|Constitutional disorders of the bone : rare yet to know : a personal experience and a systematic overview|
Constitutional bone disorders are a wide ranged spectrum that includes conditions affecting the growth, the structure or the morphology of the skeleton.
Many classifications have been suggested and none of them offered a systematic approach.
The most common one classify these diseases into two groups: osteochondrodysplasias, which are associated with abnormalities of growth (dysplasias) or texture (osteodystrophies) of bone and / or cartilage; and dysostoses, which are abnormalities of the bone that can be isolated or associated to other deformities.
Dysplasias are often secondary to defects in structural proteins, metabolic processes or in growth plate regulation. Dysostoses arise often from embryonic morphogenic defects.
After the 9th edition of the classification in 2015, we counted overall 436 diseases (was 456) and an increase to 42 groups and 364 genes. It can be explained by the discovery of multiple genectic association.
The diagnosis of congenital bone disorder can be made on the basis of a systematic and elementary approach that integrates clinical, biological and radiological findings.
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