Herbert Barrie and knobbly knees

med 2

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.

family tree

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.

knobby knees

brmedj03060-0021-b

carter.ashx

Cedric Carter (1917-1984)

The paper can be viewed here brmedj03060-0019.

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