In 1958 Herbert Barrie and his colleagues at the Hospital for Sick Children reported a family with 11 affected individuals in 4 generations and they suggested that at least two genes are responsible for MED; one for the relatively mild type seen in their family and another for the more severe type in the other families seen by Thomas Fairbank and others.
This hypothesis was based solely on radiographic analysis and shows an incredible insight into genetic heterogeneity in MED that was not appreciated at the time, but has subsequently been proven correct (Hum Mutat. 2012 Jan;33(1):144-57.)
One interesting comment in the paper is the distinctive knee characteristics of the patients, which won them a ‘knobbly knee’ contest at the seaside. This feature appears to be specific to type-IX-collagen-related MED.
Cedric Carter (1917-1984)
The paper can be viewed here brmedj03060-0019.
Harold Arthur Thomas Fairbank qualified in medicine at the Charing Cross Hospital in 1898. After serving as a Volunteer in the Boer War in South Africa (1899-1902), he trained in surgery at the Hospital for Sick Children, Great Ormond Street and in 1906 he was appointed Orthopaedic Surgeon to the Charing Cross Hospital. In 1914, during World War I, he served with the Royal Army Medical Corps in France and Flanders. After war service he was appointed orthopaedic surgeon at King’s College Hospital, London, where he remained until he retired in 1936.
Nearly 70 years ago Sir Thomas Fairbank published the first detailed account of a disorder that he described as ‘dysplasia epiphysialis multiplex’. This remarkable paper was the product of over 35 years of clinical investigation and documented the clinical and radiographic findings of 20 patients with MED that he had diagnosed between 1909 and 1946.
Although Fairbank concluded that MED, ‘as a rule, is not inherited or familial’, ensuing reports clearly established that MED could be inherited as an autosomal dominant disorder (see Waugh 1952; Maudsley 1955; Shephard 1956).
Roy Homer Maudsley FRS (1918-2011)
Full article here
Other historical papers describing MED can be found here:-