The Syndrome of Familial Defects of Heart and Upper Extremities (Holt-Oram Syndrome)

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Abstract
Two families with familial defects of the heart and upper extremities and two sporadic cases of skeletal anomalies of the same type are reported. In the most complete and prototypal form the syndrome consists of a secundum atrial septal defect of moderate size and the so-called radial defect of the upper extremities. However, less complete forms exhibiting cardiac anomalies alone, skeletal defects alone, or a combination of certain features of both, have been observed. Formes frustes undoubtedly occur. The mode of inheritance seems to be autosomal dominant and of a high degree of penetrance. Chromosome studies have suggested an abnormality in the pair 16. Study of palm and sole prints have shown the abnormalities to be secondary to musculoskeletal defects and not likely to be genetically determined. The syndrome is probably much more common than is realized. Identification of cases leading to the affected families depends upon awareness of pediatricians and orthopedists of its existence and inclusion of a careful examination of the upper extremities in all instances of atrial septal defect.