Figure 1.
Facial features as an endophenotype of NSCL/P. (a, b) Red: maximal value; blue: value equal to zero. Left to right: first panel shows the effect, second panel shows the R 2, and third panel shows the significance level in each quasi-landmark. (a) Comparing nonaffected first-degree relatives of patients with NSCL/P with control subjects, showing a significant effect in the eye and midface regions. (b) Comparing obligate carriers with control subjects, confirming the effect seen in (a). (c, d) Shape transformations, ±6 standard deviations (to exaggerate the effect for visualization purposes) from the overall average in opposite directions of the regression path. The blue box and arrows highlight the hyperteloric effect in nonaffected relatives of patients with NSCL/P. The blue line highlights midfacial retrusion in nonaffected first-degree relatives of patients with NSCL/P. (c) Corresponding to the control group. (d) Corresponding to nonaffected first-degree relatives of patients with NSCL/P.