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.
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Conflicts of interest
Dr. Calder has received hospitality and honoraria from Sanofi-Genzyme and Biomarin for speaking at symposia. There are no further conflicts of interest.
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Calder, A.D., Gaunt, T., Hickson, M. et al. Major skull manifestations of skeletal dysplasias — pictorial essay. Pediatr Radiol 50, 1658–1668 (2020). https://doi.org/10.1007/s00247-019-04473-7