AbstractKniest syndrome is a rare type of osteochondrodystrophy apparent already at birth.The disease is characterised by shortening both of the trunk and extremities of the rhizomelic type, facial dysmorfism, thickening and decreased mobility of the joints, and progressive myopia and deafness.The radiographic changes are diagnostic. They comprise a generalised platyspondyly, epiphyseal dysplasia, metaphyseal flaring and rectangular iliac bones.The disease is inherited as a dominant trait.