Spondyloepiphyseal Dysplasia Congenita

摘要: 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, extremities. later childhood characteristic changes include flattening odontoid hypoplasia, pelvic underossification the femoral head neck varus deformity. Shortened long tubular bones exhibit varied degrees epiphyseal metaphyseal changes. Myopia retinal detachment are important clinical findings in many patients. SED congenita is differentiated from Morquio's disease by roentgen features, its dominant mode inheritance, lack corneal clouding, keratosulfaturia.