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.
Silver W, Steier M, Schwartz O, Zeichner MB. The Holt-Oram Syndrome With Previously Undescribed Associated Anomalies. Am J Dis Child. 1972;124(6):911–914. doi:10.1001/archpedi.1972.02110180113017
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