Hereditary deforming chondrodysplasia 1 is a distinct clinical entity, easily recognized and presenting an unmistakable clinical morphologic, HISTOLOGIC and roentgen appearance. It is a relatively rare condition.
The first recorded case1a appeared in a Guy's Hospital report in 1825; the first in American literature, not until Gibney's2 report in 1875. Since the publication of two excellent papers by Ehrenfried3 in 1915 and 1917, the number of reported cases has increased many fold. Most clinicians still fail to recognize this condition. Textbooks of pathology make brief mention, and medical dictionaries confuse it with other conditions.
It is our belief that the undeserved slighting of this interesting condition is due largely to the unfortunate habit of each writer's devising a new name for the condition, based on some clinical or pathologic peculiarity or other whim. While it is obviously desirable for names of diseases accurately to describe them,
VANZANT BT, VANZANT FR. HEREDITARY DEFORMING CHONDRODYSPLASIA. JAMA. 1942;119(10):786–790. doi:10.1001/jama.1942.02830270022006