TableĀ 2

Summary of scoring outcomes using the four different diagnostic criteria

Scoring system1: Lai et al62: Price et al13: Netchine et al44: Bartholdi et al55. Birmingham
Sensitivity (original article)Not applicable (NA)NA69%92%NA
Specificity (original article)NANA100%49%NA
Sensitivity (Birmingham data)84%59%70%Not applicable82%
Specificity (Birmingham data)80%97%81%Not applicable80%
Negative predictive value95%80%91%Not applicable90%
Positive predictive value58%59%61%Not applicable67%
Most common unknown features1. 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.