Boulet Cedric, Madani Hardi, Lenchik Leon, Vanhoenacker Filip, Amalnath Deepak S, de Mey Johan, De Maeseneer Michel
1 Department of Radiology, Universitair Ziekenhuis Brussel, Brussel, Belgium.
2 Department of Radiology, Royal Free Hospital, London, UK.
Br J Radiol. 2016 Jun;89(1062):20150349. doi: 10.1259/bjr.20150349. Epub 2016 Feb 22.
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.
存在多种遗传性和非遗传性骨发育异常，其中许多具有独特的放射学表现。遗传性骨发育异常包括骨斑点症、条纹状骨病、骨硬化症、进行性骨干发育不良、遗传性多发性骨干硬化症和致密性骨发育不全。非遗传性发育异常包括蜡油样骨病、骨髓性骨硬化症和重叠综合征。尽管这些发育异常中的许多并不常见，但放射科医生应熟悉其遗传学、临床和影像学表现，以便与获得性骨硬化病因相鉴别。我们对遗传性和非遗传性骨发育异常进行概述，重点关注每种疾病的发病机制、临床和放射学表现。
