Jeune syndrome

Case contributed by Dr Micheál Breen

Presentation

This is a 23 month old girl with a history of recurrent lower repsiratory tract infections.

Patient Data

Age: 23 months
Gender: Female
X-ray

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.

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