Whether a mutation, even a degressive mutation, the result of a disturbance in the biologic order at the beginning of life, with its inevitable limitation of function as well as change in anatomy, may constitute disease may be open to question. The term is used in this paper chiefly because of its convenience, although I believe that any pathologic syndrome such as mongolism is in fact a "departure from health," which is the definition of disease commonly found in modern dictionaries.1
THREE SIGNS OF MONGOLISM
Figure 1 shows the astonishing elasticity of the skin in mongolism. The added peculiarity of redundancy makes it a useful sign of this disease. This combination is often best appreciated in the neck, especially the back of the neck, where the folds with their familiar feel may be grasped and lifted away from the underlying muscles.The soft skin of the mongoloid imbecile, its
BLEYER A. INDICATIONS THAT MONGOLOID IMBECILITY IS A GAMETIC MUTATION OF DEGRESSIVE TYPE. Am J Dis Child. 1934;47(2):342–348. doi:10.1001/archpedi.1934.01960090083006
Artificial Intelligence Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.