This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.
The authors propose a classification of certain skeletal dysplasias which have in common involvement of vertebrae, the round bones of the wrist and ankle, the epiphyses of the long bones and, at times, the adjacent metaphyses. As a group, these osseous affections are referred to as "spondylo-epiphyseal dysplasias." Clinically, they present with variable disturbances of articular function, disorders of gait, and diminution of stature. The pattern of involvement is variable: in some conditions, the trunk is disproportionately short; in others, there is micromelia of a degree which simulates achondroplasia. An outstanding feature in their evaluation is the relatively late clinical recognition. Most affected individuals are considered normal until the second year of life or even later, in spite of subsequent severe dwarfism.
Among conditions arbitrarily excluded from consideration notwithstanding vertebral, epiphyseal, and even metaphyseal lesions are Conradi's disease (dysplasia epiphysealis punctata), diastrophic dwarfism, metatropic dwarfism, and the mucopolysaccharidoses. These are
SILVERMAN FN. Essai de Classification des Dysplasies Spondylo-epiphysaires (An Attempt at the Classification of Spondylo-Epiphyseal Dysplasias). Am J Dis Child. 1969;118(3):538–540. doi:10.1001/archpedi.1969.02100040540027
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: