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In Reply.—With great interest we read the observations of Dr Marino and colleagues on concomitant malformations in children with atrioventricular septal defect (AVSD) without Down syndrome. They further corroborate our conclusion that AVSD is most often part of a complex of congenital anomalies. Hopefully, awareness of this phenomenon will increase and its relevance will be recognized. The separate phenotypic anomalies described are rather aspecific and subtle and they will be easily missed in everyday practice. A combination of these peculiarities could possibly form a complex associated with AVSD. Future research will learn whether the term "non-Down AVSD syndrome" is rightly coined.
VET TW, OTTENKAMP J. Atrioventricular Canal Without Down Syndrome Associated With Additional Cardiac and Noncardiac Anomalies-Reply. Am J Dis Child. 1990;144(7):752. doi:10.1001/archpedi.1990.02150310018016