Craniofacial dysostosis-diaphyseal hyperplasia syndrome

Definition

A rare primary bone dysplasia with increased bone density characterized by craniofacial dysostosis with a small cranium and thin skull bone, depressions over the frontoparietal and occipitoparietal sutures, marked hypoplasia of mandible, exophthalmos, cortical sclerosis of the long bones and normal intelligence. The long bones are short and bent, and thickening of bone cortex occurs during the pubertal and post-pubertal periods and increases with age. There have been no further descriptions in the literature since 1995.