Unusual features in familial asphyxiating thoracic dysplasia (Jeune's disease)

Asphyxiating thoracic dysplasia or Jeune's disease is a hereditary condition characterized by typical roentgenologic changes of the ribs, pelvis and extremities. Affected infants have very narrow chests and suffer from respiratory insufficiency which often leads to early death. A large family of Arabic and Greek origin is described. Two siblings were dwarfed, had narrow chests and skeletal changes similar to those seen in Jeune's disease. In both infants widening and shortening of the left lower ribs and a trident appearance of the pelvis was demonstrated. One child who was severely mentally retarded died in infancy from bronchopneumonia and the other suffers from respiratory difficulties. Other members of the family had roentgenologic changes of the pelvis, spine and skull and mental retardation, features which have not previously been described in this disease.