Congenital anomalies in the newborninfant, including minor variations

Elements of morphology: General terms for congenital anomalies

“…We use "substantial departure" here to imply that a particular anomaly is found in a small fraction (typically <2.5%) of the population or, in the case of measurable anomalies, the measured sign falls outside the normal reference range for the population (> or <2 SD from the mean). A more liberal threshold (<4%) has been advocated by others [Marden et al, 1964;Merks et al, 2003]. Anomalies, either major or minor (including malformations, deformations, disruptions, dysplasias, and sequences), can occur as isolated phenomena or as component manifestations of broader patterns or syndromes and are causally heterogeneous.…”

“…For example, Marden et al [1964] defined a major anomaly as having "an adverse effect on either the function or social acceptability of the individual" and a minor anomaly as one that is "neither of medical nor cosmetic consequence to the patient." The self-image and social acceptability of individuals with morphologic anomalies are complex psychological and social issues [Marik and Hoag, 2012;Masnari et al, 2012], which should be distinguished from the medical or biological description of the anomaly.…”

The Importance of Down Syndrome Phenocopies in the Newborns in Tertiary Obstetric Hospital

“…It is of importance to present the correlation between the number of the minor anomalies and the risk for presence of major anomaly found in different sources of information: if the individual doesn't have any minor anomaly, the probability of existence of major anomaly is about 1.4%; one minor malformation carries a probability for major anomaly of 3%; if two minor malformations are present in the same person, the probability of existing major anomaly is about 11-15%, and if three or more minor anomalies are present, the probability of major anomaly, especially chromosomal abnormality, raises over 50% [22,23]. Less than 1% of newborns have three or more anomalies, and these newborns are at higher than 20% risk for a major malformation [24,25]. Another source of information presents that children who have two minor anomalies have a 10% risk of developing major anomalies, finally, those children with 3 or more minor anomalies have again a 20% risk of developing a major anomaly [26].…”

Array-Based Comparative Genomic Hybridization Application for Revealing Genomic Micro Imbalances in Congenital Malformations

“…without serious medical or cosmetic consequences, are excluded from the category of congenital malformations [7]. While minor anomalies in themselves do not greatly affect the child, they can be associated with major anomalies or be indications of certain syndromes [8,9].…”