Asphyxiating Thoracic Dystrophy (Jeune syndrome)

Jeune syndrome (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow thorax and short limb dwarfism with a considerable neonatal mortality. We report a case of Jeune syndrome admitted at our neonatal ICU. The child had narrow thorax with short limbs. Skeletal survey showed typical findings of horizontal short ribs with irregular and enlarged costochondral junction, small and horizontal clavicles.