Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps.

In 1963-5, a study was made of the causes of severe visual handicap among 776 children in special schools in England and Wales (Fraser and Friedmann, 1967). During this study, it became apparent that a number of these blind children suffered from generalized skeletal dysplasias of poorly-defined types, often associated with sub- normal height. The blindness was due usually, but not invariably, to high myopia and retinal detachments. The skeletal dysplasia affected primarily the vertebrae and epiphyses of the long bones with variable metaphysial involvement. Before this survey, the skeletal abnormalities of these children had given rise to a multitude of diagnoses; during the survey, the condition was identified, in some cases at least, as being identical to that described as dysplasia spondyloepiphysaria con- genita (Spranger and Wiedemann, 1966a, b; Bach et al., 1967). This is an entity sui generis, and quite distinct from conditions such as Morquio-Brailsford disease and dysplasia epiphysialis multi- plex (Fairbank, 1947) with which it is sometimes confused, as the following case histories show. The differential diagnosis is discussed further in a subsequent section.