Department of Otorhinolaryngology-Head & Neck Surgery, Maastricht University Medical Center, P.O. 5800, 6202AZ Maastricht, The Netherlands.
Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43, B-2650 Edegem, Belgium.
Bone. 2014 Mar;60:48-67. doi: 10.1016/j.bone.2013.12.003. Epub 2013 Dec 8.
In this review we provide a complete overview of the existing sclerosing bone dysplasias with craniofacial involvement. Clinical presentation, disease course, the craniofacial symptoms, genetic transmission pattern and pathophysiology are discussed. There is an emphasis on radiologic features with a large collection of CT and MRI images. In previous reviews the craniofacial area of the sclerosing bone dysplasias was underexposed. However, craniofacial symptoms are often the first symptoms to address a physician. The embryology of the skull and skull base is explained and illustrated for a better understanding of the affected areas.
在这篇综述中，我们提供了一个完整的概述现有的硬化性骨发育不良与颅面受累。讨论了临床表现、疾病过程、颅面症状、遗传传递模式和病理生理学。重点介绍了大量 CT 和 MRI 图像的放射学特征。在以前的综述中，硬化性骨发育不良的颅面区域没有得到充分的描述。然而，颅面症状往往是医生首先要处理的症状。本文还解释和说明了颅骨和颅底的胚胎学，以更好地理解受影响的区域。
