January 1974

Variable Expression of the Holt-Oram Syndrome

Author Affiliations

St. Louis
From the departments of pediatrics (Drs. Kaufman, Rimoin, and Hartmann), medicine (Drs. Kaufman and Rimoin), and radiology (Dr. McAlister), Washington University School of Medicine; and the divisions of medical genetics (Drs. Kaufman and Rimoin) and cardiology (Dr. Hartmann), St. Louis Children's Hospital, St. Louis. Dr. Rimoin is now with the departments of pediatrics and medicine, UCLA School of Medicine, Los Angeles; and the Division of Medical Genetics, Harbor General Hospital, Torrance, Calif.

Am J Dis Child. 1974;127(1):21-25. doi:10.1001/archpedi.1974.02110200023003

The Holt-Oram syndrome is an autosomal dominant disorder consisting of upper-extremity and cardiovascular anomalies. Three families are described that illustrate (1) the wide variability of expression of both the cardiovascular and upper-extremity abnormalities, (2) the use of syndrome identification and knowledge of the genetics of this disorder to identify other affected family members and to provide appropriate genetic counseling, and (3) the use of roentgenographic studies to identify affected persons.