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

From: Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants

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

3*

8 mix

x

x

x

x

x

x

 

x

 

x

4*

17 perm

x

x

x

x

x

 

x

x

x

x

29

45 perm

x

 

x

    

x

  

5*

22 perm

x

x

x

x

x

  

x

x

 

16

45 perm

          

12*

14 perm

x

x

x

x

x

 

x

   

11*

43 perm

x

x

x

x

x

 

x

x

  

14*

15 perm

x

x

x

x

x

 

x

 

x

 

15*

12 perm

x

x

x

x

x

 

x

 

x

 

17*

6 mix

x

x

x

 

x

x

 

x

  

19

7 mix

  

x

  

x deciduous only

x

   
  1. The hallmark signs (key PFE traits) are italics and listed first, from 1 to 6
  2. Patients marked by * showed at least 5 hallmark signs