Presentation
Recurrent lower respiratory tract infections.
Patient Data
Frontal and lateral radiographs reveal a bell-shaped narrow thorax with short, horizontally oriented ribs. The clavicles are abnormally elevated. The frontal view shows both acetabula to be dysplastic. A gastrostomy catheter and right femoral catheter are noted.
Case Discussion
This is an example of Jeune syndrome (asphyxiating thoracic dystrophy). This is a rare type of short limb, skeletal dysplasia. It is characterized by a long, narrow bell-shaped thorax with short, horizontally oriented ribs.
Other radiographic findings can include polydactyly, short distal limbs and dysplastic acetabuli. The condition is also associated with cystic renal disease and hepatic fibrosis. Most morbidity and mortality is related to respiratory compromise 1.