Morquio in 1929 described two cases of familial and generalized osseous dystrophy, similar in many features to previously reported cases of achondroplasia, or chondro-osteodystrophy, yet impressing one as involving a separate syndrome. The condition is generally considered to be osteochondropathy sui generis. In 1935 Morquio added to the two cases already reported the detailed clinical histories of two more of the affected brothers in the same family of five. He could add little that was new to his original classic description of the peculiar and rare clinical syndrome.
Morquio wrote in 1929:
The children are born normal and develop normally during the first year. When they start walking, changes are noted, and these become accentuated in the following months and become stationary and definite. These manifestations are bony changes, without any pain, which affect the body, the vertebral column and the extremities and spare the head and the face. Functional