Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK.
Radiology Department, The Whittington Hospital NHS Trust, London, UK.
Pediatr Radiol. 2020 Nov;50(12):1658-1668. doi: 10.1007/s00247-019-04473-7. Epub 2020 Nov 2.
Skeletal dysplasias are a large group of rare conditions with widely heterogeneous manifestations and a reputation for being diagnostically difficult. Involvement of the brain and craniovertebral junction are features familiar to the paediatric neuroradiologist. Involvement of the skull itself represents an area of overlap between the domains of the neuroradiologist and the skeletal dysplasia radiologist. In this pictorial essay, we review the principal skull manifestations of skeletal dysplasias as they present to the neuroradiologist.
骨骼发育不良是一组罕见疾病，其临床表现广泛且具有异质性，其诊断难度也较大。脑和颅颈交界区受累是儿科神经放射学家所熟悉的特征。颅骨本身的受累则代表了神经放射学家和骨骼发育不良放射学家的两个领域之间的重叠区域。在本影像学专题中，我们回顾了神经放射学家所遇到的骨骼发育不良的主要颅骨表现。
