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Observational Study
. 2025 Jul 3;26(1):23.
doi: 10.1186/s40510-025-00570-6.

Permanent first molar eruption failure in children: leading signs for early diagnosis

Cristina Grippaudo  1   2 , Elisabetta Tabolacci  3   4 , Marco Farronato  5   6 , Pietro Chiurazzi  3   7 , Sylvia A Frazier-Bowers  8
Affiliations
Observational Study

Permanent first molar eruption failure in children: leading signs for early diagnosis

Cristina Grippaudo et al. Prog Orthod. .

Abstract

Background: This cross-sectional observational study seeks to determine the clinical differences in eruption failure of permanent first molars presenting in cases of ankylosis, failure due to mechanical obstruction (MFE), and failure due to genetic causes (PFE). A total of 34 patients between 7 and 12 years old (mean ± SD: 9.3 ± 1.28 years), with anomalies in the eruption of the first permanent molars, were selected based on clinical observation, the evaluation of orthopanoramic radiographs, and intra- and extra-oral photographs. Genetic testing was also conducted to identify variants of the PTH1R gene in 27 patients with clinical signs of PFE. The familial nature of the condition was investigated through anamnesis of the first-degree relatives.

Results: Out of the 34 patients, 3 were diagnosed with PFE, confirmed by the presence of PTH1R variants. Twelve patients showed clinical signs suggestive of MFE diagnosis. The remaining 19 cases, in which no variants of the PTH1R gene were found, were considered cases of ankylosis. Roots in ankylosed teeth were located in the basal bone and often dilacerated. The reduction of vertical growth of the alveolar bone was present in both PFE and ankylosis cases, but teeth were nearer to the basal bone in ankylosis cases. Infraocclusion of deciduous teeth was present in PFE and MFE cases. Asymmetry due to bilaterally unbalanced eruption of the teeth was present in six cases with ankylosis. Bilateral affection was noticed in one PFE case and 6 MFE cases. A descriptive statistical analysis using Fisher's exact test was employed to evaluate the significant association between variables.

Conclusions: The study highlighted some characteristic signs that help in early diagnosis of cases of PFE, MFE, and ankylosis. However, genetic testing remains necessary to understand the nature of the most dubious cases.

Keywords: PTH1R gene; Ankylosis; Eruption failure diagnosis; Genetic testing in dentistry; Infraocclusion; Mechanical failure of eruption (MFE); Pediatric dental anomalies; Permanent molar eruption failure; Primary failure of eruption (PFE).

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: The present research was approved by the Ethics Committee of the Università Cattolica del Sacro Cuore, Roma (ID 565 − 11/2015). Consent for publication: The present research is not under consideration to any another Journal, and the consent for publication was obtained by each author, furthermore the use of personal data was approach by each participant or parent/legal guardian to the study prior to the start. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Two PFE cases and corresponding variants in PTH1R gene.A Case 1 presents the variant in exon 9 of the PTH1R gene, c.720 G> C;p.(Lys240Asn) (left panel). Note the teeth anomalies in the OPT (middle panel) and in the intra-oral photograph (right panel). B In case 3 the c.988+5G> A (rs779366145) variant in intron 10 is reported (left panel). OPT of the child (middle panel) and intra-oral photograph (right panel) show the teeth anomalies (i.e. first molar retention). Both sequences of the PTH1R gene are reported in the reverse strand
Fig. 2
Fig. 2
Comparison between patient #2 (PFE) and #27 (MFE) with similarity of clinical signs and different genetic test result
Fig. 3
Fig. 3
Patient #1 (PFE) and patient #12 (Ankylosis): in both a reduction in the vertical growth of the alveolar bone is observed, which is greater in the case of Ankylosis
Fig. 4
Fig. 4
Patient #31: A at the time of diagnosis; B after orthodontic therapy
Fig. 5
Fig. 5
Patient #33 presenting infraocclusion of the element 55 and agenesis of the element 15 with delayed eruption of 36 and 46
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