Craniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome

Craniometaphyseal dysplasia (CMD) is a genetic craniotubular bone disorder characterized by early progressive hyperostosis and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses of the tubular bones. We present the case of a patient with a confirmed history of the autosomal dominant form of CMD, associated with symptoms of obstructive sleep apnoea syndrome. Examination and imaging studies revealed several unusual features in addition to the common findings of CMD such as: bimaxillary retrusion with hyperostosis of the mental area, severe notching of the external occipital protuberance, huge occipital horn, decreased angle of the mandible with notching of the body and thickening of the areas of muscle attachment, and macrodontia. The literature and differential diagnoses are reviewed.