Published online by Cambridge University Press: 29 January 2018
The syndrome of cleidocranial dysostosis was first reported by Marie and Sainton in 1898. It is a congenital condition giving rise to a defect in ossification. The principal clinical features are dwarfism, a large head with a small fades, and a depressed or saddle-shaped nose. The clavicles are incomplete or absent, scapulae are small and poorly formed, and frequently the symphysis pubis fails to fuse.