We investigated soft tissue facial asymmetry in normal and syndrome-affected individuals ranging in age from 1 year to adulthood. The purposes of our study were to determine if facial asymmetry was greater in syndrome-affected individuals than in normal individuals and, if true, to distinguish those measurements that could be used in routine screening to identify the presence of syndromes in uncertain patients and, lastly, to investigate the causes of measurement asymmetry at the level of the landmarks. The last purpose was possible because we used a stereophotogrammetric method with which the three-dimensional (3D) landmark positions were obtained. In the statistically significantly different measurements, those from the right side were dominant, with one exception in each group, except normal males. In all groups the landmark analyses demonstrated the same trends, and while there was far less patterning in the 3D coordinates, these results were also consistent between the four groups. We compared the statistical findings of the 3D coordinates and measurements and found that there was no predictable relationship between significant findings in the landmarks and the measurements. In particular, we noted that statistical differences in measurements did not infer significant differences in the positions of the landmarks between the right and left sides of the face. Both the normal and syndrome-affected groups appeared to be equally canalized and similarly affected by developmental noise: When the bilateral measurement differences of each syndrome-affected subject were compared to the limits of normal asymmetry, less than 10% of the comparisons exceeded the norms.

The primary goal of our study was to compare photogrammetric measurements with caliper-derived measurements. We also looked at the difference between caliper-derived measurements that were taken with and without the landmarks marked. Thirteen facial measurements were repeated ten times on two adult subjects as follows: 1) Calipers were used to take the measurements before the landmarks were marked on each subject's face; 2) the landmarks were then marked with a black pencil, and the calipers were used to take the measurements again; and 3) images were taken of each subject with the markings left on the face, and the measurements were extracted from these images. Compared with the caliper-derived data taken with the landmarks marked, the photogrammetric means and standard deviations were typically larger, leading us to conclude that there was a systematic difference between the data. The generally greater variation in the photogrammetric measurements was ascribed to poor conditions, such as shadows, oblique markings, and unmarked landmarks. When the data gathered by caliper with and without the landmarks marked were compared, a systematic difference was suggested by the number of statistically significant t-test probabilities. Marking the landmarks reduced the standard deviations in some measurements by controlling two sources of variation: differing pressure on the skin and slippage of the calipers. Anthropologists, medical geneticists, and others who use measurements for diagnostic or classificatory purposes should be aware that data gathered by different techniques may yield different results.

Prompted by our finding that a popular compendium of clinical measurements often suggests a transparent ruler as a suitable substitute for anthropometric calipers (which were typically used by the original researchers to collect the normative data), we compared facial measurements taken with a ruler and calipers. Our objectives were to compare facial measurement data taken with these instruments by two classes of observer: expert and inexperienced. Ten facial measurements were repeated on four medically normal women by one expert and one inexperienced observer. Both observers' data showed that the caliper-derived means were usually the larger, but, whereas the expert observer's caliper-derived data typically were the least variable, the novice observer had smaller standard deviations and ranges for the ruler-derived data. Statistically significant differences were found between the ruler- and caliper-derived data from both observers on all four subjects, except for subnasale-pogonion and stomion-pogonion. For the novice observer only, endocanthion-endocanthion, left exocanthion-endocanthion, and alare-alare were also nonsignificant. The calibrations of the sliding caliper and ruler were compared to determine if differences between them could explain the statistical results, but were the same. We concluded that the differences between the caliper- and ruler-derived measurements resulted because the ruler often could not be placed directly on the landmarks, as could the arms of the calipers. We recommend that clinicians interested in taking facial measurements to assess their patients consult the original publications for information on the techniques and instruments used so that reliable comparisons with the normative data can be made.

The primary goal of our study was to compare photogrammetric measurements with caliper-derived measurements. We also looked at the difference between caliper-derived measurements that were taken with and without the landmarks marked. Thirteen facial measurements were repeated ten times on two adult subjects as follows: 1) Calipers were used to take the measurements before the landmarks were marked on each subject's face; 2) the landmarks were then marked with a black pencil, and the calipers were used to take the measurements again; and 3) images were taken of each subject with the markings left on the face, and the measurements were extracted from these images. Compared with the caliper-derived data taken with the landmarks marked, the photogrammetric means and standard deviations were typically larger, leading us to conclude that there was a systematic difference between the data. The generally greater variation in the photogrammetric measurements was ascribed to poor conditions, such as shadows, oblique markings, and unmarked landmarks. When the data gathered by caliper with and without the landmarks marked were compared, a systematic difference was suggested by the number of statistically significant t-test probabilities. Marking the landmarks reduced the standard deviations in some measurements by controlling two sources of variation: differing pressure on the skin and slippage of the calipers. Anthropologists, medical geneticists, and others who use measurements for diagnostic or classificatory purposes should be aware that data gathered by different techniques may yield different results.

We investigated soft tissue facial resemblance among relatives with or without syndromes and among related and unrelated individuals diagnosed with the same syndrome. Using correlation coefficients, we compared facial landmark (i.e., three-dimensional coordinate) positions and measurements gained by photogrammetry in various combinations of normal and syndrome-affected individuals. There were fewer significant correlations for the three-dimensional coordinates and measurements between the normal parent-normal child pairs than for the normal sib pairs. There was no discernible pattern for the single measurements in the parent-child pairs, whereas all of the midline vertical measurements were significantly positively correlated in the normal sib pairs. Significant correlations were always positive in all sib comparisons, but ranged from negative to positive in all parent-child correlations. The shared environment of sibs was a possible explanation for their greater resemblance in comparison with parent-child pairs. We also had measurements from 11 subjects (related and unrelated) diagnosed with one of four syndromes, and we used these to compare individuals with the same syndrome by calculating correlation coefficients based on all available pairs of measurements. The highest significant positive correlations were found for related individuals with the same syndrome (0.72 to 0.83). Unrelated individuals with the same syndrome also had significant positive correlations, but they were lower (0.35 to 0.65). We therefore inferred that the genetic similarities between unrelated individuals with syndromes played a role in the resemblance between them, and that common genes and environment in related individuals further contributed to the high correlations found for them.