Asphyxiating thoracic dysplasia is a very rare condition also known as Jeune disease. The characteristic chest radiograph is shown here and demonstrates an elongated, narrow "bell-shaped" chest with horizontal clavicles. The disease is autosomal recessive in transmission, usually lethal due to pulmonary infections and respiratory failure. The disease is associated with renal failure (tubular disease) and congenital heart disease such as patent ductus arteriosus.
The short tubular bones of the hands and feet are characteristic of the disease with "cone-shaped" epiphyses which fuse early and give rise to acromelic shortening.
Although usually described as a lethal disease, recent surgical advances have centered on rib expansion techniques for these children.
REFERENCES
Chen CP, Lin SP, Liu FF, Jan SW, Lin SY, Lan
CC. Prenatal diagnosis of asphyxiating thoracic dysplasia (Jeune syndrome).
Am J Perinatol. 1996 Nov;13(8):495-8.
Ben Ami M, Perlitz Y, Haddad S, Matilsky M. Increased
nuchal translucency is associated with asphyxiating thoracic dysplasia.
Ultrasound Obstet Gynecol. 1997 Oct;10(4):297-8.