Table 3 Clinical signs in patients with PTH1R variants that are likely pathogenic (nonsense, frameshift and missense)

Patient ID

Age and dentition

1. permanent molars are affected

2. teeth distal to a PFE-affected molar are also affected

3. supracrestal presentation (eruption pathway completely clear)

4. there is a reduction of vertical growth of the alveolar bone in the affected regions

5. a lateral open bite is present in the affected regions

6. deciduous infraoccluded in mixed dentition

7. asymmetry due to bilaterally unbalanced eruption of the teeth

8. affected individual presents with a bi-lateral affection of PFE

9. affected molars are located in the basal bone of the jaws

10. affected molars show dilacerated roots