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.
Kozlowski KS, Celermajer JM, Tink AR. Humero-Spinal Dysostosis With Congenital Heart Disease. Am J Dis Child. 1974;127(3):407–410. doi:10.1001/archpedi.1974.02110220105015
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