Skeletal Manifestations of the Holt-Oram Syndrome

Abstract

The Holt-Oram syndrome is an autosomal dominant trait consisting of characteristic upper-limb abnormalities and congenital heart disease. Shoulder abnormalities are typical. Carpal abnormalities are distinctive and may be present even when the digits are normal. The most striking carpal abnormality is the presence of extra carpal bones. Carpal anomalies appear to be more specific for Holt-Oram syndrome than thumb changes. Prominent laterally and posteriorly protuberant medial epicondyles of the humeri are seen in many patients. The lower extremities are normal.