December 1972

The Holt-Oram Syndrome With Previously Undescribed Associated Anomalies

Author Affiliations

Brooklyn, NY
From the departments of pediatrics (Drs. Silver, Steier, and Schwartz) and pathology (Dr. Zeichner), Maimonides Medical Center, and the Department of Pediatrics (Drs. Silver, Steier,; and Schwartz), New York State University, Downstate Medical Center, Brooklyn, NY.

Am J Dis Child. 1972;124(6):911-914. doi:10.1001/archpedi.1972.02110180113017

Holt and Oram first described the combination of anomalies of the upper limb with atrial septal defect. Other cardiac lesions found with similar skeletal lesions were subsequently described. Three cases of the Holt-Oram syndrome occurred, one with a previously undescribed associated cardiac lesion (tricuspid atresia), and all three with various genitourinary and gastrointestinal anomalies not usually described with the syndrome.