Acromesomelic dysplasia

a short-limbed dwarfism of autosomal recessive inheritance that involves the limb and extremities. Radiographic findings include shortening of the midportion of the tubular bones, widening of the short tubular bones, radial bowing, radial head dislocation and kyphosis secondary to mild platyspondyly and vertebral hypoplasia in the thoracolumbar area. The markedly shortened bones in the hands, feet, and forearms and the spinal changes allow separation of acromesomelic dysplasia from other mesomelic dysplasias and from pseudohypoparathyroidism. Hydrocephalus may also be seen.