Abstract: Craniometaphyseal dysplasia (CMD) is a rare genetic bone disorder characterized by progressive hyperostosis and sclerosis of the craniofacial bones and abnormal metaphyseal widening of the tubular bones.CMD has two major modes of inheritance,autosomal dominant (AD) form (OMIM #123000) and autosomal recessive (AR) form (OMIM #218400).In this paper,a 7-year-old male with AD CMD was reported.The patient presented with a history of congenital craniofacial deformities and hearing loss,and was later confirmed by ANKH mutation.

Key words: Craniometaphyseal dysplasia, Hyperostosis sclerosis, Metaphyseal widening, Craniofacial deformity