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Minor Malformations: Significant or Insignificant

KATHLEEN A. LEPPIG, MD; MARTHA M. WERLER, MPH; CRISTINA I. CANN; CATHERINE A. COOK; LEWIS B. HOLMES, MD
Am J Dis Child. 1988;142(12):1274. doi:10.1001/archpedi.1988.02150120028024.
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Sir.—Dr Hoyme1 in his editorial published in the September issue of AJDC failed to recognize our2 recent work regarding the value of minor malformations for predicting the presence of a major malformation. In our study, 4305 newborn infants were examined for the presence of minor anomalies and major malformations. There were 158 infants identified as having three or more minor anomalies, among whom 31 (19.6%) had a concomitant major malformation. Our observed predictive value of 19.6% differs substantially from the 90% reported by Marden et al3 and cited by Hoyme. A similar predictive value of 26% was noted in a similar study by Mehes et al.4 In reviewing these studies, the most likely cause for this difference is the use of a checklist of minor anomalies in our study. This checklist helped remind our examiners to look for the presence or absence of each specific

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