DYSPLASIA SPONDYLOEPIPHYSARIA CONGENITA AND RELATED GENERALIZED SKELETAL DYSPLASIAS AMONG CHILDREN WITH SEVERE VISUAL HANDICAPS

Several examples of unusual generalized skeletal dystrophies leading to dwarfism and in some cases identical to the condition known as dysplasia spondyloepiphysaria congenita were found in a series of 776 children with severe visual handicap in special schools in England and Wales. It is not possible to state categorically whether all these cases represent a single genetic entity with a wide range of phenotypic variation, or whether two or more distinct conditions are involved. This dystrophy (or dystrophies) is probably inherited in an autosomal dominant manner and is frequently, but not invariably, associated with high myopia, either congenital or of very early onset, which may lead to retinal detachments and blindness. Primary cataracts and buphthalmos may also occur as ocular complications of this syndrome which frequently includes perceptive deafness and, occasionally, cleft palate. The differential diagnosis of this syndrome or group of syndromes is considered within the context of a discussion concerning inherited associations between eye defects and generalized skeletal dystrophies.