Figure 1 Variants in TOP3A Are Associated with Prenatal-Onset Growth Retardation and Microcephaly
(A) Morphometric data for TOP3A individuals. A global reduction in growth is evident from before birth. Z scores (standard deviations from population mean for age and sex) for birth weight (Wgt), postnatal weight, height (Hgt), and occipital-frontal circumference (OFC). Dashed lines indicate the 95% confidence interval for the general population. Black circles indicate data points for individuals with TOP3A mutations. For comparison, gray bars indicate the mean value for cohorts of 89 (birth weight), 47 (current weight), and 52 (current height) subjects with Bloom syndrome.21
(B) Photographs of facial features of individuals with TOP3A mutations.