Jeune syndrome

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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