April 1973

Holt-Oram Syndrome

Am J Dis Child. 1973;125(4):623. doi:10.1001/archpedi.1973.04160040117028

To the Editor.  —Silver et al1 have described three cases under the title "The Holt-Oram Syndrome with Previously Undescribed Associated Anomalies" in the December issue of this journal. We do not feel that it is valid to assign the diagnosis of Holt-Oram syndrome to any of these three patients, especially the first two patients, who had imperforate anus. The association of defects of the radial aspect of the upper limb with imperforate anus was emphasized by Say and Gerald2 and more recently we have emphasized the nonrandom association of Vertebral defects, Anal atresia, Tracheosophageal fistula with Esophageal atresia, and Radial dysplasia, which we have crudely referred to as the "VATER" association of anomalies.3,4 Among such patients cardiac anomalies, renal defects, single umbilical artery, and auricular anomalies have occurred, as described among the three cases of Silver et al.1 In the report of the VATER association of

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