Having recently returned from the Horizon 2020 funded ‘MCDS-Therapy’ project kick-of meeting in Brussels, I though that it would be timely to write a short blog on the specific bone dysplasia for which are about to repurpose carbamazepine.
We had written in the Horizon 2020 grant application that “MCDS was initially described as ‘dysostosis enchondralis metaphysarea’ by Schmid in 1949 and subsequently by Maroteaux and Lamy in 1958 and is a very rare form of short-limbed dwarfism that is characterised by disproportionate short stature and long bone deformities.”
But I wondered how our description and nomenclature had evolved since the first documented report by Dr F Schmid in 1949.
Schmid, F. Beitrag zur Dysostosis enchondralis metaphysarea. Mschr. Kinderheilk. 97: 393-397, 1949.
Chapter 9 of the revised ‘Fairbank’s Atlas of General Affections of the Skeleton’ by Ruth Wynne-Davies and TJ Fairbanks (Sir Thomas’ son) is dedicated to ‘The Metaphyseal Chondrodysplasias’ and provides historical context and clinical/radiographic detail on 13 related conditions:-
Peter Beighton’s ‘Inherited disorders of the skeleton’ refers to the same types of Metaphyseal Chondrodysplasia as Wynne-Davies and Fairbanks (1976), but also describes the differential diagnosis of metabolic rickets and relates the story of ‘bowed Joseph’, who led the Edinburgh meal riots and died in 1780 after a fall from the top of a stage-coach when returning from Leith races in an drunken state.