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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