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Table 4 Clinical signs in patients with PTH1R variants that are likely benign (synonymous and intronic)

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

Patient ID

Age and dentition

1. permanent molars are most frequently 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

1

18 perm

x

 

x

 

x

 

x

   

2*

8 mix

x

x

x

 

x

x

 

x

 

x

6

8 mix

x

x

x

 

x

  

x

 

x

7

8 mix

x

 

x

x

x

x

   

x

8*

16 mix

x

x

x

 

x

x

x

  

x

9

8 mix

x

 

x

x

x

 

x

 

x

 

10*

17 perm

x

x

x

x

x

 

x

x

x

 

13

12 perm

x

 

x

    

x

x

 

18

6 mix

x

 

x

 

x

x

x

x

  

22

17 perm

x

 

x

 

x

 

x

   

24

11 mix

x

 

x

 

x

x

 

x

  

30

14 perm

x

 

x

   

x

   

72

12 perm

x

x

x

x

  

x

 

x

x

20

12 mix

x

 

x

       

23

15 perm

x

 

x

   

x

 

x

 

37

8 mix

  

x

 

x

x dec. only

    

43

12 perm

  

x

       

47

7 mix

  

x

  

x dec. only

x

   

49

10 mix

  

x

  

x dec. only

    
  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