Spondyloepiphyseal Dysplasia Congenita

In 29 patients spondyloepiphyseal dysplasia (SED) congenita, an heritable bone dysplasia, was manifest at birth with small stature and retarded ossification of vertebral bodies, pelvis, and extremities. In later childhood characteristic changes include flattening and dysplasia of vertebral bodies, odontoid hypoplasia, pelvic dysplasia, and underossification of the femoral head and neck with varus deformity. Shortened long tubular bones exhibit varied degrees of epiphyseal and metaphyseal changes. Myopia and retinal detachment are important clinical findings in many patients. SED congenita is differentiated from Morquio's disease by roentgen features, its dominant mode of inheritance, lack of corneal clouding, and keratosulfaturia.