March 1974

Humero-Spinal Dysostosis With Congenital Heart Disease

Author Affiliations

Sydney, Australia
From the departments of radiology (Dr. Kozlowski) and medicine (Dr. Tink), and the Adolph Basser Institute of Cardiology (Dr. Celermajer), Royal Alexandra Hospital for Children, Sydney, Australia.

Am J Dis Child. 1974;127(3):407-410. doi:10.1001/archpedi.1974.02110220105015

Two half-siblings exhibited unusual bone changes (coronal cleft vertebrae, shortening of humeri with distal bifurcation, subluxation in the elbow joints, shortening and hypotubulation of the long bones of the lower extremities, widened iliac bones, and talipes equinovarus) as well as congenital heart disease.

To the authors' knowledge, these patients represent a hitherto undescribed syndrome. The disease is probably inherited as a dominant trait with variable penetrance.