Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders

Cedric Boulet, Hardi Madani, Leon Lenchik, Filip Vanhoenacker, Deepak S Amalnath, Johan de Mey, Michel De Maeseneer
British Journal of Radiology 2016, 89 (1062): 20150349
There is a wide variety of hereditary and non-hereditary bone dysplasias, many with unique radiographic findings. Hereditary bony dysplasias include osteopoikilosis, osteopathia striata, osteopetrosis, progressive diaphyseal dysplasia, hereditary multiple diaphyseal sclerosis and pyknodysostosis. Non-hereditary dysplasias include melorheostosis, intramedullary osteosclerosis and overlap syndromes. Although many of these dysplasias are uncommon, radiologists should be familiar with their genetic, clinical and imaging findings to allow for differentiation from acquired causes of bony sclerosis. We present an overview of hereditary and non-hereditary bony dysplasias with focus on the pathogenesis, clinical and radiographic findings of each disorder.

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