Introduction
Cleidocranial dysplasia (CCD) often results in supernumerary teeth, impacted teeth, and malocclusions. Treatment options include orthodontics to erupt the impacted dentition in the oral cavity or prosthodontic replacement of impacted teeth. This study assesses whether patients with CCD who have certain malocclusion traits have worse oral health–related quality of life (OHRQoL) than those without these malocclusions, and whether patients with CCD who received orthodontic treatment have better OHRQoL than those treated with prosthodontics.
Methods
Patients with CCD aged 15 years and older underwent an oral examination and completed the oral health impact profile–14 survey. Independent-samples t tests were performed to compare the oral health impact profile–14 scores among patients with and without specific oral findings.
Results
Sixty-one patients participated in this study. Those with posterior crossbites experienced significantly worse OHRQoL in the domain of physical pain ( P = 0.015; 95% confidence interval [CI] = 0.316-2.750). For those with anterior open bites, a significantly worse OHRQoL was observed in the domain of handicap ( P = 0.046; 95% CI, 0.027-2.919). Anterior crossbites resulted in statistically significantly worse OHRQoL in the functional limitation domain ( P = 0.027; 95% CI, 0.149-2.373). Lastly, patients who received prosthodontic treatment reported significantly worse OHRQoL ( P = 0.037; 95% CI, 0.685-21.015) and higher scores in physical pain ( P = 0.038; 95% CI, 0.114-3.981), physical disability ( P = 0.005; 95% CI, 0.872-4.543), and social disability ( P = 0.020; 95% CI, 0.091-3.398).
Conclusions
Patients with CCD who have anterior crossbites, posterior crossbites, or anterior open bites have worse OHRQoL in specific domains compared with those without these malocclusions. In addition, patients who underwent prosthodontics had worse OHRQoL than those who underwent orthodontics.
Highlights
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Anterior and posterior crossbites and anterior open bites can be found in cleidocranial dysplasia (CCD).
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Patients with CCD who have anterior or posterior crossbites or anterior open bites have worse oral health–related quality of life.
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Patients with CCD who underwent prosthodontic replacement of impacted teeth have worse oral health–related quality of life.
Cleidocranial Dysplasia (CCD) is a rare autosomal dominant genetic disorder that affects 1 in 1,000,000 people. , Classic features of CCD, a disorder that affects teeth and bones, include missing or small clavicles, open fontanelles, over-retained deciduous teeth, supernumerary teeth, and impaired eruption of permanent teeth. , A diagnosis of CCD is made based on clinical and radiographic findings or genetic testing, which reveals a mutation in the RUNX2 gene in most patients. ,
There have been many publications regarding the dental and craniofacial findings in CCD. In addition to retained deciduous teeth and impacted supernumerary and permanent teeth, patients with CCD can have anterior and posterior crossbites and reduced overbite. One systematic review documented that 46.5% of the affected patients were brachycephalic and 43.3% had maxillary hypoplasia. Another systematic review noted that 100% of patients with CCD had maxillary transverse constriction, supernumerary teeth, and eruption failure, and 94% had maxillary hypoplasia. In addition, 98% of patients had a Class III dental relationship. However, because CCD is so rare, studies on the dental phenotype in CCD often have small sample sizes.
Patients with CCD are among the most difficult to treat orthodontically. To aid in the eruption of the impacted permanent dentition, surgery is performed to extract the primary and supernumerary teeth and expose the permanent teeth. Traction is applied to the exposed permanent teeth to erupt them into the arch. , Orthodontic treatment time in patients with CCD may take 10 or more years. This lengthy orthodontic treatment puts these patients at risk for caries, increased root resorption, treatment burnout, and significant financial burden. Because of the lengthy orthodontic treatment time as well as the number of surgeries needed, although not usually advised, patients may elect to pursue prosthodontic replacement of impacted teeth rather than forced orthodontic eruption. These treatments can include extracting all impacted teeth and placing a prosthesis to restore the missing dentition. ,
The purpose of this study is to describe the impact of dental manifestations of CCD on OHRQoL in patients aged 15 years and above. Specifically, this study aimed to answer whether the presence of an anterior crossbite, posterior crossbite, anterior open bite, or 8 or more missing teeth in patients with CCD results in a worse OHRQoL. In addition, this study also assessed whether patients with CCD who underwent prosthodontic replacement of impacted teeth have different OHRQoL than patients with CCD who underwent orthodontic eruption.
Material and methods
Institutional review board approval was obtained for this study by the Johns Hopkins review board (IRB00246592). Study participants were recruited at 2 conferences organized by CCD Smiles Foundation, a non-profit organization to support individuals with CCD. A total of 131 participants with CCD attended the first meeting in June 2022, and 72 participants with CCD attended the second meeting in November 2022. Inclusion criteria required participants to have a confirmed diagnosis of CCD, be at least 15 years old, and be able to complete a survey in English independently. Exclusion criteria included participants under 15 years of age, those unable to complete the survey in English without assistance, and those without a diagnosis of CCD. Diagnosis of CCD was verified by a clinical geneticist at the meeting based on clinical features. If a different diagnosis was suspected, the participant was excluded from the study.
At both conferences, written consent was obtained from participants after informing them of the study procedures and protocols. After consent was obtained, participants underwent an oral examination and completed a validated survey.
The oral examinations were performed by 4 examiners: 2 craniofacial orthodontists, 1 craniofacial orthodontic fellow, and 1 orthodontic resident. The examiners were calibrated to ensure that their definitions of dental findings were consistent, and the reliability of their assessments was confirmed through agreement checks, demonstrating high consistency among assessors. The information collected in the oral exam included facial profile, facial length, teeth present, molar classification, overbite, overjet, degree of crowding or spacing, crossbites, and presence of prosthetic teeth.
After the oral examination, examinees completed the oral health impact profile–14 (OHIP-14) survey to assess OHRQoL. The OHIP-14 survey has 14 questions regarding 7 different domains: functional limitation, physical pain, psychological discomfort, physical disability, psychological disability, social disability, and handicap. Each domain included 2 questions that assessed how the oral condition affected the examinee in the past 12 months. The answer choices to each of the 14 questions were based on the frequency of the events: never, 0; hardly ever, 1; occasionally, 2; fairly often, 3; and very often, 4. Responses within each domain were summed to generate a domain score. The total OHIP-14 score was calculated by adding the responses to all 14 questions. The highest score an examinee can obtain per domain was 8, and the highest possible score for the entire survey was 56. The score is inversely correlated to quality of life.
This study focused on comparing 4 specific oral exam findings with each of the 7 domains from the OHRQoL survey. These exam findings included the following: number of missing teeth, presence of an anterior crossbite, presence of a posterior crossbite, and presence of an anterior open bite. In addition, the OHRQoL of those who received prosthetic teeth to replace all impacted permanent teeth was compared with those who underwent orthodontic eruption of permanent teeth.
The count of missing teeth excluded those replaced by fixed prostheses, such as bridges or implants. A threshold of 8 missing teeth was selected based on evidence indicating that the prevalence of negative oral health impacts increases markedly when the number of remaining teeth falls below 20. Therefore, for this study, a patient was considered to have missing teeth if they were clinically missing 8 or more teeth (excluding third molars). Anterior crossbite was considered present when any of the 6 maxillary anterior teeth were lingual to their mandibular counterparts. Posterior crossbite was considered present when any of the maxillary posterior teeth were lingual to their mandibular counterparts. Anterior open bite was defined as the absence of vertical overlap between the maxillary and mandibular incisors.
A patient was considered to have received prosthodontic treatment if they had a form of tooth replacement, such as implants, bridges, or fixed or removable complete or partial dentures. Patients were considered to have had orthodontic treatment if they had a history of orthodontic appliances, such as braces or space maintainers.
Independent-samples t tests were performed using SPSS (version 29; IBM, Armonk, NY) to examine the impact of oral findings on the OHIP-14 scores and their subdomains, comparing patients with CCD with and without specific oral findings. The significance level for this analysis was set at 5%. The Levene test was used to test the assumption of equal variances being compared, and Cohen d was used to measure the effect size and magnitude of the differences between the OHIP-14 scores of those with and without malocclusions. The Benjamini-Hochberg procedure was used to calculate the false discovery rate because multiple independent-samples t tests were employed.
Furthermore, participants older than 18 years were asked in an additional survey whether they had completed orthodontic treatment, and if so, how many years it took to complete. These participants were also asked if, in hindsight, they would have preferred to receive prosthetic replacement teeth rather than orthodontic treatment to erupt the impacted dentition.
Results
A total of 189 patients with CCD attended the 2 CCD Smiles Foundation meetings, and of these patients, 104 underwent oral examinations. Of these 104 patients, 75 were aged 15 years and older ( Table I ). Of these 75 patients, 70% had brachyfacial profiles and 80% had high arched palates. Forty-four percent had concave profiles, 23% had anterior crossbites, and 62% had a bilateral Angle Class III molar relationship or a Class III subdivision molar relationship. Forty-nine percent of the patients had unilateral or bilateral posterior crossbites, 11% had anterior open bites, and 32% had 8 or more missing teeth.
Table I
Demographic data of patients with CCD older than 15 years who completed an oral examination
| Demographic data | |
| Participants aged ≥15, n | 61 |
| Female, n (%) | 38 (62.3) |
| Male, n (%) | 23 (37.7) |
| Age (y), mean (SD) | 35.0 (15.0) |
| Age (y), mean (SD); female | 35.0 (13.1) |
| Age (y), mean (SD); male | 34.9 (18.1) |
n, number; y , years; SD, standard deviation.
Most participants (57%) received orthodontic treatment, 19% participants received a combination of orthodontic and prosthodontic treatment, 12% had prosthodontic treatment alone, and 12% received neither orthodontic nor prosthodontic treatment.
Of the 75 participants who underwent oral examinations, 61 completed the OHIP-14 validated survey ( Fig ). The presence of a posterior crossbite, anterior open bite, anterior crossbite, missing 8 or more teeth, and history of prosthodontic treatment were compared with the OHIP-14 survey results ( Table II ). The OHIP-14 scores for each of the 7 domains and the overall OHIP-14 scores were quantified and categorized by intraoral findings ( Table III ).
Flowchart outlining the number of oral exams completed and the corresponding inclusion and exclusion outcomes.
Table II
Oral findings of the 61 participants with CCD older than 15 years who underwent an oral examination and completed the OHIP-14 survey. Table lists number of participants in each category
| Posterior crossbite | Anterior crossbite | Missing 8+ teeth | Anterior open bite | Prosthodontics and no orthodontics | |
|---|---|---|---|---|---|
| No | 23 | 41 | 46 | 49 | 49 |
| Yes | 31 | 14 | 15 | 6 | 6 |
| N/A | 7 | 6 | 0 | 6 | 6 (neither) |
N/A , not applicable.
Table III
OHIP-14 results of the 61 participants with CCD older than 15 who underwent an oral examination and completed the OHIP-14 survey (data are separated by oral findings and both the total OHIP-14 and individual OHIP-14 domain scores)
| Total OHIP | Functional limitation | Physical pain | Psychological discomfort | Physical disability | Psychological disability | Social disability | Handicap | |
|---|---|---|---|---|---|---|---|---|
| Posterior crossbite | ||||||||
| No | 16.13 | 1.83 | 2.43 | 4.13 | 1.65 | 3.00 | 1.43 | 1.70 |
| Yes | 20.84 | 2.06 | 3.97 | 4.90 | 2.65 | 3.45 | 2.00 | 1.81 |
| Anterior open bite | ||||||||
| No | 18.24 | 1.76 | 3.35 | 4.57 | 2.04 | 3.20 | 1.63 | 1.69 |
| Yes | 25.33 | 3.17 | 3.83 | 5.67 | 2.33 | 4.33 | 3.00 | 3.17 |
| Missing 8+ teeth | ||||||||
| No | 17.10 | 1.60 | 3.20 | 4.50 | 1.60 | 3.10 | 1.50 | 1.60 |
| Yes | 30.90 | 3.70 | 5.00 | 5.70 | 4.90 | 4.90 | 3.60 | 3.20 |
| Anterior crossbite | ||||||||
| No | 17.98 | 1.59 | 3.27 | 4.56 | 1.95 | 3.12 | 1.73 | 1.78 |
| Yes | 22.08 | 2.85 | 3.62 | 5.08 | 2.46 | 4.00 | 1.85 | 2.23 |
| Prosthodontics without orthodontics | ||||||||
| No | 18.82 | 2.02 | 3.29 | 4.69 | 1.96 | 3.33 | 1.76 | 1.80 |
| Yes | 29.67 | 2.83 | 5.33 | 6.00 | 4.67 | 4.67 | 3.50 | 2.67 |
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