Craniometaphyseal dysplasia with severe maxillary hypoplasia due to ANKH gene mutation: A case report.

Abstract excerpt

Craniometaphyseal dysplasia (CMD) is characterized by metaphyseal dysplasia, sclerosis of the skull base, and craniofacial bone overgrowth. The autosomal dominant form of CMD (OMIM: 123000) is associated with features such as mandibular prognathism, dental misalignment, and bony paranasal bossing. In contrast, the autosomal recessive form (OMIM: 218400) can result in severe distortion of the craniofacial...

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