The holt-oram syndrome: The long and the short of it

Two families with the Holt-Oram syndrome are described. These families demonstrate a wide variety of thumbs including a “fingerized” hypoplastic thumb, a triphalangeal thumb, a long clumsy-appearing thumb, and a normal thumb. Three of the patients studied had an atrial septal defect. Three affected patients do not have heart disease but do have an abnormal thumb. The cardiac defect in 1 is uncertain. These families are reported on to emphasize that the thumb may be normal or long rather than hypoplastic. Diagnosis of the Holt-Oram syndrome thus offers the excitement of making a cardiovascular diagnosis merely by looking at the hand as well as the discovery of a surgically curable lesion.