Familial Primary Failure of Eruption of Permanent Teeth

ABSTRACT Objective: To test the hypothesis that mutations in the parathyroid hormone 1 receptor (PTH1R) include effects in both primary and permanent teeth. Materials and Methods: DNA was extracted from saliva samples of 29 patients (8 familial and 21 sporadic) who presented with clinical evidence of infraoccluded teeth, and their unaffected relatives (N = 22). Sequencing followed by mutational analysis of the coding regions of PTH1R gene was completed for all individuals (N = 29). Results: Eight of 29 cases revealed a heterozygous pathogenic variant in the PTH1R gene; five of eight variants represented distinct mutations based on comparison with the dbSNP, HGMD, and ESP databases. One mutation (c.1765 T>C p.Trp89Arg) was found to segregate within a family (n = 3). In silico analyses for all variants revealed a putative pathogenic effect. A genotype-phenotype correlation was reported as defined by a functional mutation in PTH1R and corresponding effects on one or more posterior teeth only; unilateral or bilateral involvement, infraoccluded primary teeth. Conclusions: Novel mutations were reported in the PTH1R gene that included PFE-affected primary molars, thus providing the basis for using a genetic diagnostic tool for early diagnosis leading to proper management.

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Severe Posterior Infra-occlusion on a Young Girl Posing a Diagnostic Challenge- Review and Report of a Case of Primary Failure of Eruption

10.22541/au.163921110.03521389/v1 ◽

2021 ◽

Author(s):

Mirna Awad ◽

Lana Dalbah ◽

M Srirengalakshmi ◽

Adith Venugopal ◽

Nikhilesh Vaid

Keyword(s):

Young Girl ◽

Permanent Teeth ◽

Mechanical Obstruction ◽

Diagnostic Challenge ◽

Primary Failure Of Eruption

Primary failure of eruption is characterized by a non-syndromic eruption failure of permanent teeth in the absence of any mechanical obstruction. Applying orthodontic traction to teeth affected by PFE will not be successful and may cause ankylosis. This correspondence reviews and demonstrates the treatment of a case of PFE.

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Replacing buried teeth: A Review of primary failure of eruption of permanent teeth and case report

Dental Update ◽

10.12968/denu.2021.48.4.308 ◽

2021 ◽

Vol 48 (4) ◽

pp. 308-314

Author(s):

Jann Siew Chin ◽

Matthew BM Thomas

Keyword(s):

Case Report ◽

Clinical Relevance ◽

Unusual Case ◽

Permanent Teeth ◽

Primary Failure Of Eruption ◽

Old Adult ◽

Variable Presentation

Primary failure of eruption is a condition that has variable presentation and can be difficult to diagnose. This article provides an overview of the condition and discusses the management of an unusual case of primary failure of eruption of permanent teeth in a 37-year-old adult. CPD/Clinical Relevance: Where surgical and orthodontic options are unpredictable, restorative management alone may achieve successful functional and aesthetic outcomes for cases involving primary failure of eruption of permanent teeth.

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Multiple unerupted teeth – an interesting challenge

Orthodontic Update ◽

10.12968/ortu.2019.12.4.134 ◽

2019 ◽

Vol 12 (4) ◽

pp. 134-139

Author(s):

Naeem Adam ◽

Andrew Flett ◽

Cara Sandler

Keyword(s):

Rare Earth ◽

Clinical Condition ◽

Clinical Management ◽

Favourable Outcome ◽

Permanent Teeth ◽

Primary Failure Of Eruption ◽

Clinical Challenge ◽

Pros And Cons ◽

Fixed Appliances ◽

Unerupted Teeth

This paper describes primary failure of eruption and presents some of the theories about the aetiology of this clinical condition. It also covers single ankylosed teeth as well as cases that present with multiple unerupted teeth. The various approaches to the clinical management of this not uncommon problem are discussed, along with the pros and cons of some of these techniques. One difficult clinical challenge is documented, where a 14-year-old patient presented with 19 unerupted permanent teeth and, with the help of rare-earth magnets and upper and lower fixed appliances, within a two-year period a good result was achieved. CPD/Clinical Relevance: Clinicians encounter teeth that have failed to erupt on a regular basis. Appropriate diagnosis and treatment planning of these cases, and subsequent effective clinical management, is imperative to ensure the most favourable outcome for our patients.

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Relationship between incisal tooth wear and the increasing number of permanent teeth in children and adolescents

Journal of Oral Rehabilitation ◽

10.1046/j.1365-2842.1997.00516.x ◽

1997 ◽

Vol 24 (6) ◽

pp. 410-413 ◽

Cited By ~ 1

Author(s):

J. SILNESS ◽

M. BERGE ◽

G. JOHANNESSEN

Keyword(s):

Children And Adolescents ◽

Tooth Wear ◽

Permanent Teeth

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Cementum and other root abnormalities of permanent teeth in cleidocranial dysostosis

BDJ ◽

10.1038/sj.bdj.4803603 ◽

1975 ◽

Vol 139 (8) ◽

pp. 313-318 ◽

Cited By ~ 13

Author(s):

A D Hitchin

Keyword(s):

Permanent Teeth ◽

Cleidocranial Dysostosis

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Signs and symptoms of craniomandibular dysfunction in a population of Spanish children

REVISTA ODONTOLOGÍA PEDIÁTRICA ◽

10.33738/spo.v16i1.11 ◽

2018 ◽

Vol 16 (1) ◽

pp. 24

Author(s):

Maria Esperanza Sánchez-Sánchez

Keyword(s):

Signs And Symptoms ◽

Permanent Teeth ◽

Tooth Sensitivity ◽

Craniomandibular Dysfunction ◽

Teeth Grinding ◽

Specific Questionnaire ◽

Other Hand ◽

Opening And Closing

The craniomandibular dysfunction (CMD) is a pathology that can appear at early ages. In a sample of 36 childrenresiding in Madrid (Spain), of both sexes, with ages between 7 and 13 years, the prevalence of signs and symptomsof CMD was analyzed. For that purpose, we did a dental and muscular examination, together with temporomandibularjoints, functional and occlusal examination, and completed with a specific questionnaire. The results revealedthat 100% showed some sign or sympthom of CMD. 77,8% of the pacients presented 3 or more CMD signs.The most prevalent were painful muscle palpation (94,4%), together with sliding anteriorly (91,7%), painful jointpalpation (69,4%), wear facets in permanent teeth (41,7%) and altered opening and closing trayectory (38,9%). Onthe other hand, only 38,9% showed any CMD symptom. The most prevalent symptoms were night teeth grinding(27,8%), followed by tooth sensitivity (19,4%) and fullness in the ears (16,7%). We conclude that in our sample,25% presented mild CMD (less that 3 signs or symptoms), 58,3% presented moderate CMD (from 3 to 6 signs orsymptoms) and 16,7% showed severe CMD (more than 6 symptoms). Nevertheless, it’s important to remark thatnone of these pacients came seeking treatment for his CMD and these symptoms were refered only when beingasked. Hence the importance of a comprehensive clinic history to precociously diagnose this pathology and havethe ability to prevent its progression.

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