The Importance of Minor Anomalies in the Evaluation of the Newborn

After completing this article, readers should be able to: 1. List the number of minor anomalies associated with an increased risk of an associated major malformation. 2. Describe the tests that should be conducted in patients who have preauricular ear pits or tags. 3. Delineate which dorsal cutaneous stigmata require further evaluation. 4. Delineate the evaluation that should be undertaken in any infant who has asymmetric crying facies. 5. Describe the potential disease in any Caucasian child who has three or more cafe au lait spots or any African-American child who has five or more cafe au lait spots. The identification of congenital anomalies has important diagnostic and prognostic implications for neonates. Because many children who have congenital anomalies are identified in the neonatal period, the neonatologist often is the clinician to whom families turn for initial information about the significance of such anomalies. Another reason for neonatologists to be familiar with minor anomalies is that identification of certain minor anomalies may suggest the need for further diagnostic studies and the search for related conditions. The purpose of this article is to review the significance of minor anomalies, with particular attention to five commonly encountered findings. The term “congenital” simply means that the finding is present at birth, regardless of cause. This should not be confused with the term “genetic”; congenital does not imply a cause. An anomaly is a structural defect that deviates from the normal standard and can be classified as major or minor. A major anomaly has surgical, medical, or cosmetic importance. A minor anomaly has no major surgical or cosmetic importance. As might be expected, the prevalence of a given feature in the general population can vary, based on race, ethnic background, and gender of the individual. A minor anomaly typically refers to physical differences that occur in fewer than 4% …