Jeune Syndrome is a hereditary condition characterized by the inability of the rib cage to develop. This autosomal recessive (transmission of the disease by the recessive gene) condition, which is quite rare, can also be accompanied by abnormalities of the respiratory and excretory systems. Since Jeune Syndrome, an abnormal tissue disorder in the skeleton, is rare, there may be delays in its diagnosis. It occurs every 100 thousand to 130 thousand live births. The natural consequence of the small rib cage in patients is the underdevelopment of the lung. The course of the disease is determined by the severity of the chest deformity. Most of the patients are lost within the first age due to respiratory problems. For this reason, Jeune Syndrome should definitely come to mind in the differential diagnosis of infants with breathing difficulties and chest deformities.

 

 

Jeune Syndrome was first described by Jeune and colleagues in 1955 in a patient who appeared with a narrow rib cage and multiple cartilage anomalies and was lost after birth due to respiratory failure. Although the exact cause is unknown, it is thought to have arisen due to a genetic disorder.

 

 

Dwarfism is characterized by the short formation of the ribs, stenosis of the pelvis (hip bone). 60-70 percent of patients may be lost from respiratory distress due to insufficient lung development. Those who survive, on the other hand, may develop kidney problems. Symptoms such as adhesions on the fingers and toes, destruction at the base of the eyes, impaired absorption in the intestine, cystic liver, congenital cirrhosis of the liver, cystic changes in the pancreas, heart failure due to an increase in pulmonary vascular resistance are observed. Since the abdominal region is also seen to be more protruding, there is a bell-shaped chest appearance. While still in the womb, ultrasound scans show a narrow rib cage and an increase in the amount of fluid.

 

 

In addition to the physical examination, radiological and clinical findings are also examined to diagnose the disease. Direct radiography, Computed Tomography (CT) or Magnetic Resonance (MR) imaging methods can be used to determine the severity of the disease and the type of treatment.

 

 

Symptom-relieving support applications and operations to widen the stenosis in the rib cage can be performed. Various techniques can be used to treat this rare disorder. The main purpose of surgery is to expand the volume of the rib cage and relieve the lung. In order to expand the rib, synthetic or autologous graft application is most often preferred. Thus, the chest circumference increases and the lung has found space to expand. Phased procedures may be required due to the growth of the child. Prof. Dr. Mustafa Yuksel has also provided treatment for this rare syndrome by performing seven gradual breast enlargement surgeries in 5 cases so far. In all cases, a titanium bar was used to expand the rib cage. The success rate is quite high in cases where the case selection is done well.