Case reports a rare skeletal dysplasia causing respiratory distress in a neonate, highlighting imaging's diagnostic role.
Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a rare skeletal dysplasia characterized by a constricted thoracic cage and variable skeletal abnormalities that may result in severe respiratory insufficiency in the neonatal period. We report the case of a term male neonate admitted on the first day of life for acute respiratory distress. Imaging revealed a markedly narrow thorax with short ribs and elevated clavicles, associated with characteristic pelvic abnormalities including trident-shaped acetabula and short iliac bones, consistent with Jeune syndrome. Despite intensive supportive care and mechanical ventilation, the clinical course was complicated by progressive respiratory failure, resulting in death after 7 days. This case illustrates the characteristic imaging findings of Jeune syndrome and emphasizes the role of imaging in establishing the diagnosis.
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Aouadi et al. (2026) studied this question.
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