Summary of scoring outcomes using the four different diagnostic criteria
| Scoring system | 1: Lai et al6 | 2: Price et al1 | 3: Netchine et al4 | 4: Bartholdi et al5 | 5. Birmingham |
|---|---|---|---|---|---|
| Sensitivity (original article) | Not applicable (NA) | NA | 69% | 92% | NA |
| Specificity (original article) | NA | NA | 100% | 49% | NA |
| Sensitivity (Birmingham data) | 84% | 59% | 70% | Not applicable | 82% |
| Specificity (Birmingham data) | 80% | 97% | 81% | Not applicable | 80% |
| Negative predictive value | 95% | 80% | 91% | Not applicable | 90% |
| Positive predictive value | 58% | 59% | 61% | Not applicable | 67% |
| Most common unknown features | 1. Clinodactyly (n=28/139) 2. Post-natal short stature (n=32/139) | 1. Relative macrocephaly (OFC) (n=59/139) 2. Post-natal short stature (n=32/139 | 1. OFC (n=59/139) 2. Post-natal short stature (n=32/139) | 1. Low birth length (n=114/139) 2. Relative macrocephaly at birth (OFC) (n=112/139) |
OFC, occipitofrontal circumference.