Jeune Syndrome: This asphyxiating thoracic
dysplasia is a rare autosomal recessive chondrodysplasia that often leads to
death in infancy because of a severely constricted thoracic cage and
respiratory insufficiency. Most often associated with pulmonary hypoplasia,
recurrent respiratory infections leading to respiratory insufficiency. Long,
narrow thorax, short, horizontal ribs, handlebar clavicles, and bulbous
irregular rib ends. The frequency is 1/100,000 to 1/130,000 live births. The
survivors may develop renal failure and hepatic fibrosis, polycystic liver
disease, jaundice, and pancreatic fibrosis. Proteinuria and
hyperbilirubinemia must be assessed.