Fig. 3

Tooth ultrastructural analyses. a–d High-resolution X-ray CT analysis of exfoliated teeth from control individual IV:8 and affected individuals IV:2 and IV:9. a 3D reconstruction of the tooth CT data: individual IV:8 and individuals IV:2 and IV:9. b 3D reconstruction of pulp chambers. Teeth of IV:2 and IV:9 exhibit thistle-shaped pulp chambers. c Typical CT sections through the teeth are presented using false colour calibrated with respect to mineral density to generate mineral density maps. Scale bar is marked in g/cm³. d Mean enamel and dentin mineral density for each tooth is also shown graphically. The control tooth of IV:8 exhibits enamel and dentin apparently normal in structure and density. Affected teeth of IV:2 and IV:9 exhibit enamel and dentin significantly reduced in mineral density compared with the normal tooth (P < 0.001). *P < 0.05, **P < 0.01, or ***P < 0.001. Videos of 3D-rendered CT data showing surface detail and the internal structure of all teeth are available as Supplementary Material. e–j SEM of representative exfoliated teeth. e Tooth of individual IV:8 exhibits normal enamel architecture comprising prisms (rods) of individual enamel crystallites. f Enamel of patient IV:9 tooth is in the normal range in terms of the order but characterized by fewer enamel prisms (rods) and wider inter-rod distances, h with occasional areas exhibiting a disturbed structure (asterisk). h The width of the DEJ of patient IV:9 is increased and the shapes of transitions within the DEJ zone are straight instead of sigmoidal. i SEM of the control tooth of individual IV:8 shows normal dentin structure. j The distribution of dentin tubules was not even and the size of the dentin tubular diameter was not consistent with the tooth of patient IV:9. j Most peritubular dentin is thicker and dentin tubes are smaller or obliterated completely compared to the control tooth.