Figure 1.

Unique pathognomonic features in Kagami–Ogata syndrome (KOS). (a) Photographs of a patient with a maternally inherited 411 354 bp microdeletion involving DLK1, the IG-DMR, the MEG3-DMR, MEG3, RTL1/RTL1as, MEG8 and a centromeric part of snoRNAs (Deletion-4 in Figure 3).² IG-DMR, intergenic differentially methylated region. The facial ‘gestalt' with full cheeks and protruding philtrum is observed from infancy through childhood. (b) Chest roentgenogram of a hitherto unreported Japanese neonatal patient with an epimutation. The CHA (coat-hanger angle) to the ribs is increased, and the M/W ratio (the ratio of the mid to widest thorax diameter) is decreased. Normal values are based on our previous report.¹⁰