Abstract

The autosomal dominant upper extremity skeletal defects with congenital heart disease is known as the Holt-Oram syndrome. From 1964 to 1984, we have experienced 8 cases of the Holt-Oram syndrome among 100 cases of radial ray deficiencies in our hospital. We reviewed these 8 cases and discussed the mechanism of combination of congenital heart disease and upper extremity skeletal defects. We, as orthopedic surgeons, emphasize the importance of paying attention to the congenital heart disease when we treat the upper extremity skeletal defects.

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