Craniometaphyseal Dysplasia: A Case Report

Craniometaphyseal dysplasia is a rare genetic bone disorder characterized by cranial hyperostosis, sclerosis, and failure of normal modeling of the tubular bones. Both autosomal dominant and recessive forms have been described. Diagnosis of the craniometaphyseal dysplasia is mode on the basis of characteristic radiographic findings. Radiologic findings are thickening and hyperostosis of the skull, and Erlenmeyer flask deformity of the metaphysis on the long bones. We report a case of the craniometaphyseal dysplasia.