Congenital imprinting disorders: A novel mechanism linking seemingly unrelated disorders

摘要

A2.5-month-old boy with a history of neonatal diabetes mellitus was referred for genetic evaluation. The infant's biometric parameters were in the lower normal range: weight, 3700 g (10th percentile); length, 54 cm (25th percentile); head circumference, 36.5 cm (10th percentile).1 He exhibited macroglossia, severe umbilical hernia, and coarse facial features (Figure 1, B). He was born by cesarean delivery at gestational week 35 + 6 because of maternal preeclampsia. Growth measures at birth were in the normal range: weight, 2490 g (20th percentile); length, 39 cm (70th percentile); head circumference, 33.5 cm (50th percentile).