Figure 1

Occipitofrontal circumference (OFC)–for–age in the DICER1 syndrome. (a) Abnormal OFC for age. Proportions between the 3rd and 97th centiles (white), below the 3rd centile (gray), or above the 97th centile (black) in DICER1 mutation carriers and family controls. P values are for the Fisher exact test of differences between groups. (b) Females. Red triangles indicate DICER1 mutation carriers. White diamonds represent family controls. Blue circles represent girls without a detectable germ-line DICER1 mutation but who harbor a DICER1-associated tumor (7-year-old: type II pleuropulmonary blastoma (PPB); 15.5-year-old: Sertoli-Leydig cell tumor; 17-year-old: type II PPB). The dashed lines indicate the 97th, 50th, and 3rd centiles of OFC for age reported in Rollins et al.¹⁴ The vertical dashed line at age 10 years indicates a change in the scale of the x axis to allow for better resolution of children’s values. (c) Males. Blue circles represent boys without a detectable germ-line DICER1 mutation but who harbor at least one DICER1-associated tumor (4-year-old: type I PPB and cystic nephroma; 7.7-year-old: type II PPB only).