Table 1.
Overall NE assessment and Z-scores for the three MPS I individuals in relation to summary reference statistics
| Dysmorphology (RSD in %) | Relative severity (RMSE in mm) | Z-RSD (%) | Z-RMSE (mm) | |
|---|---|---|---|---|
| Reference (mean) | 10.6 | 0.91 | - | - |
| Reference (SD) | 1.8 | 0.22 | - | - |
| Individual I (MPS IHS) | 9.08 | 0.95 | −0.84 | +0.18 |
| Individual II (MPS IS) | 10.31 | 1.19 | −0.16 | +1.27 |
| Individual III (MPS IH) | 12.84 | 1.46 | +1.24 | +2.50 |
% Dysmorphology scores were based on RSD values of the outlier map, which quantified the extent of the discordance and depicted the ‘affected area’. The RMSE (mean + SD) score quantified the overall degree of discordance in millimetre and provided a measure of severity of the ‘affected area’. Z-scores described the extent of difference to reference distributions (reference range). MPS IHS (Hurler-Scheie Syndrome); MPS IS (Scheie Syndrome); and MPS IH (Hurler Syndrome)