Figure 3.

Intraoral images and dental radiographs illustrating the variation in enamel phenotypes associated with heterozygous COL17A1 variants in primary and secondary teeth. (i) Primary tooth enamel changes can be minimal and easily missed and are primarily characterised by hypomaturation changes with subtle surface focal pitting (F10). (ii) A predominantly hypomaturation AI phenotype with some surface irregularities (F9). (iii) Surface pits and other irregularities are the clinically dominant feature, on a background of hypomaturation (F4). (iv) Hypomaturation enamel is combined with more exaggerated surface pits merging into grooves with mid-third crown regional hypoplasia (arrow) (F3). (v) Section of an orthopantomogram of a mixed dentition illustrating near normal enamel thickness with a normal difference in radiodensity between the enamel and the supporting dentine (F15). (vi) Intraoral radiograph illustrating near normal enamel thickness, but with enamel irregularities and a lesser difference in radiodensity between enamel and dentine than would be expected (F5). Further clinical images and dental radiographs are included in online supplemental figure S4.