Isolated Thoracic Dysostosis

A father and five children with a deformity of the thoracic cage alone are discussed. Each had a constricted, bell-shaped thorax with foreshortened and deformed ribs and a pectus excavatum deformity of the anterior chest wall. Clinically, there were repeated respiratory illnesses but no fatalities. This appears to represent a previously undescribed autosomal dominant condition with clinical and radiographic manifestations restricted to the thorax.