Abstract
Craniometaphyseal dysplasia (CMD) is a rare genetic bone remodelling disorder characterized by undertubulation of the long bones and sclerosis and hyperostosis of the skull base with cranial nerve impairment. To our knowledge there are no previous reported cases of autosomal dominant CMD and acquired Chiari type 1 malformation with cervicomedullary compression. We outline the clinical and radiological features of this condition and describe the surgical management.
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