Table 4.

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

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

The hallmark signs (key PFE traits) are italics and listed first, from 1 to 6

Patients marked by * showed at least 5 hallmark signs