Craniometaphyseal dysplasia: A rare case in radiologic perspective

Abstract

Craniometaphyseal dysplasia (CMD) is a very rare bone disorder of unknown etiology. It is characterized by sclerosis of the skull, craniofacial bones and even extremities. Although the exact etiology has not been understood, it is thought to be due to a mutation in the human ankylosis gene, ANKH. Here we report a case of a young male patient with extensive bony involvement. Radiographic examinations showed increased radiopacities of the maxilla and mandibular bones due to hyperostosis and sclerosis, and needed a detailed workup of bone dysplasias which made it a rare presentation for documentation.

Keywords

• Cranial nerves
• craniometaphyseal dysplasia
• hard palate
• sclerosis