An early breathing disorder in a newborn: Jeune syndrome

Abstract

Introduction: Jeune syndrome affects an estimated 1 in 100.000 to 130.000 people. The syndrome causes breathing disorders and upper or lower respiratory tract infections because of thoracic cage which is smaller and narrower than usual.

Case: Here we report a male newborn presented with narrow thoracic cage and short limbs. Radiological evaluation with PA chest graphy showed abnormal short ribs. 3D CT showed decreased antero-posterior diameter of chest cavity, horizontally located round ended ribs, and shallow acetabular cavity. Abdomen ultrasonography detected bilateral small kidneys accompanied by left pelvi-caliectasis and milimetric intraparanchimal liver calcification. Following recurrent lower respiratory tract infections, the baby expired within fourth month. The final diagnosis was Jeune syndrome.

Conclusion: Jeune syndrome is a rare seen congenital anomaly. Radiological evaluation is essential for the diagnosis. Characteristic findings include many skeletal abnormalities on costochondral junctions, clavicles, iliac bones, long bones of the extremities, and phalanges of both hands and feet. About 60% to 70% of children with this condition die from respiratory failure as babies or young children which are the problem. Early diagnosis to decrease mortality is highly dependent on the early diagnosis of this syndrome