Asphyxiating Thoracic Dysplasia

Christine Carqueville

Andrew Poznanski, M.D.

Children's Memorial Hospital


Young infant with shortness of breath


Short ribs, cone epiphyses, asphyxiating thoracic dysplasia, Jeune syndrome, small thorax, plain film, 614

Publication Date: 2005-04-28


Young infant with shortness of breath. Images 3 & 4 are at a later date (10 months).

Image #5 is of another patient with the same diagnosis.


Image #1: Small thorax.

Image #2: Clinically, small thorax.

Image #3 (at 10 months): Hand with cone epiphyses in phalanges.

Image #4 (at 10 months): Pelvis is relatively normal with slight metaphyseal irregularity.

Image #5: Another patient with more severe disease. This patient died.


Asphyxiating Thoracic Dysplasia (Jeune disease)


Chondroectodermal dysplasia (Ellis-van Creveld Syndrome) may also have small thorax but has polydactyly of the hands. Short Rib Polydactyly Syndrome has polydactyly and but these infants are usually severely affected and are still born.


Asphyxiating thoracic dysplasia, an autosomal recessive dysplasia, usually presents at birth. The major clinical findings include a long, narrow thorax that is accompanied by breathing difficulty in infancy and followed by gradual improvement of thoracic function and configuration through childhood. Short extremities are common with occasional postaxial hexadacyly. Progressive renal disease is often associated with asphyxiating thoracic dysplasia, and hepatic fibrosis is also common.

Respiratory distress due to reduced pulmonary space is accountable for most of the mortality in infancts with this dysplasia. Persistent respiratory infections may continue through childhood with progressive renal disease also appearing at a later age.

Characteristic radiographic features include a small thorax in both transverse and antero-posterior diameter with short ribs (more pronounced in infancy than childhood). There is cephalocaudal shortening of the iliac bones and premature ossification of the capital femoral epiphyses. As with the thoracic configuration, the pelvic appearance normalizes with age. The extermities are usually disproportionately short with metaphyseal irregularities. The middle and distal phalanges have cone-shaped epiphyses in later childhood.


  1. Spranger, J.W., Brill, P.W., Poznanski, A., BONE DYSPLASIA AN ATLAS OF GENETIC DISORDERS OF SKELETAL DEVELOPMENT, 2nd Ed., Oxford University Press, 2002, 125-126.

5 images