MRI susceptibility artefacts caused by orthodontic wire.

OBJECTIVES: To evaluate magnetic susceptibility artefacts produced by orthodontic wires on MRI and the influence of wire properties and MRI image sequences on the magnitude of the artefact. METHODS: Arch form orthodontic wires [four stainless steels (SS), one cobalt chromium (CC) alloy, 13 titanium (Ti) alloys] were embedded in a polyester phantom, and scanned using a 1.5-T superconducting magnet scanner with an eight-channel phased-array coil. All wires were scanned with T1-weighted spin echo (SE) and gradient echo (GRE) sequences according to the American Society for Testing and Materials (ASTM) F2119-07 standard. The phantom was also scanned other eight sequences. Artefacts were measured using the ASTM F2119-07 definition and OsiriX software. Artefact volume was analyzed according to metal composition, wire length, number of wires, wire thickness, and imaging sequence as factors. RESULTS: With SE/GRE, black/white artefacts volumes from all SS wires were significantly larger than those produced by CC and Ti wires (P < 0.01). With the GRE, the black artefacts volume was highest with the SS wires. With the SE, the black artefacts volume was small, whereas white artefacts were noticeable. The cranio-caudal extent of the artefacts was significantly longer with SS wires (P < 0.01). Although a direct relationship of wire length, number of wires and wire thickness with artefact volume was noted, these factors did not influence artefact extension in the cranio-caudal direction. CONCLUSIONS: Ferromagnetic/paramagnetic orthodontic wires create artefacts due to local alteration of magnetic field homogeneity. The SS-type wires produced the largest artefacts followed by CC and Ti.

MR appearance of a rare ameloblastic fibroma with formation of dental hard tissues with histopathologic correlation: a case report.

An ameloblastic fibroma with formation of dental hard tissues, which the classical name is ameloblastic fibro-odontoma (AFO), is a rare type of mixed odontogenic tumor. An 8-year-old boy was diagnosed with AFO, with an inhomogeneous high signal within the lesion shown by T2-weighted magnetic resonance imaging (MRI). Computed tomography (CT) imaging revealed a unilocular low CT value area of 24 × 19 × 26 mm with buccolingual bony expansion and cortical bone thinning on the left side of the mandible including the crown of the mandibular left second molar. In addition, multiple calcified bodies were detected within the lesion, one of which had a CT value of approximately 2200 HU, equivalent to that of enamel. MRI indicated the lesion to be sized 24 × 19 × 25 mm along with buccolingual bony expansion in the left side of the mandible. Additionally, the lesion showed an internal inhomogeneous high signal, while a portion had an especially high signal in T2-weighted images. That particularly high signal area coincided with the nodular growth area of mucus-rich mesenchymal components without the epithelial component in histopathology findings. The particularly high signal revealed by T2-weighted imaging could be attributed to the mucus-rich component. MRI was found useful for revealing differences in the internal histopathological properties of an AFO in our patient.

Radiation-induced undifferentiated spindle cell sarcoma following high-dose-rate interstitial brachytherapy for tongue squamous cell carcinoma.

High-dose-rate interstitial brachytherapy (HDR-ISBT) has recently come to be considered one of the most effective treatments for oral cancer. On the other hand, it is important to note that radiation therapy has some side effects. Especially, radiation-induced malignancy is probably the most serious complication affecting long-term survivors. We report a case of a radiation-induced undifferentiated spindle cell sarcoma that developed following HDR-ISBT for tongue squamous cell carcinoma (SCC). A 39-year-old woman with right tongue SCC underwent HDR-ISBT (60 Gy, 10 fractions, 8 days) treatment. Five years and one month later, a tumor had developed at the primary site. Surgery was performed for the tumor, which was histopathologically diagnosed as an undifferentiated spindle cell sarcoma. That was distinct from the squamous cell origin of the primary cancer. According to recently established criteria for radiation-induced malignancy, this case was classified as a radiation-induced sarcoma. A search of the literature revealed no previous report of radiation-induced malignancy following HDR-ISBT for tongue cancer.

Prognostic factors for lymph node metastasis from upper gingival carcinomas.

OBJECTIVES: This study sought to identify tumor characteristics that associate with regional lymph node metastases in squamous cell carcinomas originating in the upper gingiva. MATERIALS AND METHODS: Data from 113 patients from Osaka University Dental Hospital were included. We measured each primary tumor's width, length, depth, and the extent of bone invasion. Additionally, tumor signal intensity for T1 and T2-weighted images as well as the center of the tumor's location and T classification was assessed, and a histopathological analysis was performed. RESULTS: Tumor signal intensity was not found to be a significant prognostic factor. However, bucco-lingual width, histopathological classification as well as the tumor's location were significantly different between metastatic and non-metastatic groups in both univariate and multivariate analysis. Superior-inferior depth and T classification were significant only in the univariate (and not the multivariate) analysis. CONCLUSIONS: Bucco-lingual width, histopathological grading as well as the tumor's location are likely to be important predictors for the occurrence of LN metastasis in upper gingival carcinoma patients and should be considered when managing care for these patients.

Comparison of 3-D mandibular surfaces generated by MRI and CT.

OBJECTIVE: The purpose of this study was to evaluate the errors of three-dimensional mandibular surfaces generated using magnetic resonance imaging (MRI) when computed tomography (CT) was set as the gold standard. SETTINGS AND SAMPLE POPULATION: Seven patients with orthognathic deformities who had undergone CT and MRI scans were included in the study. MATERIALS AND METHODS: Mandibular surfaces were generated on each CT and MR image by the surface-rendering method. Intra-individual reliability between CT and MRI was statistically tested by the confidence limits of agreement (LOA) for systematic error, 95% confidence interval minimal detectable change (MDC95 ) for random error and intra-class correlation coefficient (ICC). RESULTS: The average total error was 1.6 mm. The greatest MDC95 was observed in the coronoid region in all directions. The other regions showed MDC95 values of < 1.8 mm (transvers direction), 3.5 mm (vertical direction) and 1.7 mm (antero-posterior direction). ICCs showed 'almost perfect' agreement with respect to all regions. CONCLUSION: Random errors were quantified for 3-D rendering of the mandible from MRI data. Although the coronoid region showed the greatest errors, the other regions of the mandibular surfaces generated using MRI were able to be evaluated.

Dental Subphenotypes in Infants With Orofacial Clefts-A Longitudinal Population-Based Retrospective Radiographic Study of the Primary and Secondary Dentitions.

OBJECTIVES: To determine the developmental patterns of primary and secondary dentitions in infants with orofacial clefts. DESIGN: Retrospective, longitudinal, population-based cohort study. MATERIALS: Longitudinal records and radiographs of 192 nonsyndromic Northern European infants with isolated unilateral cleft lip (UCL, n = 111) and isolated cleft palate (CP, n = 81). METHODS: Radiographic assessments of primary and secondary dentition anomalies and dental maturation, by gender and cleft severity for comparisons between the groups and with historical controls. RESULTS: In infants with UCL, the frequencies of dental anomalies were high in both primary (38.7%) and secondary (18.0%) dentitions. Primary and secondary dentition anomalies were not observed in infants with CP and different in the UCL group (P = .003). Risk differences involved primary supernumerary teeth (P = .0001) and talon cusp formation (P = .0001), and secondary tooth agenesis (P = .001) of the maxillary lateral incisor on the side of the cleft lip. Delayed primary and secondary dental maturation occurred in the UCL and CP groups, greater in infants with UCL (P < .0001). Primary and secondary dental maturation featured sexual dimorphism with greater delay in males (UCL, P < .0001; CP, .0001 > P = .001). The effect of cleft severity on dental maturation was significant in infants with UCL (P = .0361) and CP (P = .0175) in the primary but not in the secondary dentition. CONCLUSIONS: There were different dental anomalies in the primary and secondary dentitions in operated infants with UCL and no dental anomalies in unoperated infants with CP. Dental maturation was delayed in infants with UCL and CP with greater delay in males compared to females.

Distant metastasis from oral cavity-correlation between histopathology results and primary site.

OBJECTIVES: Oral cancer is the eighth most common type of cancer worldwide and a significant contributor to the global burden caused by this disease. The principal parameters considered to influence prognosis, and thus treatment selection, are size and location of the primary tumor, as well as assessment of the presence and extent of lymph node and distant metastasis (DM). However, no known report regarding the relationship between the primary site and DM has been presented. For effective treatment selection and good prognosis, the correlation of DM with anatomic site and histopathology results of the primary malignancy is important. In the present study, we performed a systematic review of published reports in an effort to determine the relationship between the anatomic site of various types of oral cavity cancer and DM. METHODS: A systematic review of articles published until the end of 2018 was performed using PubMed/MEDLINE. RESULTS: A total of 150 studies were selected for this review. The percentage of all cases reported with DM was 6.3%, ranging from 0.6% to 33.1% in the individual studies. The rate of incidence of tongue occurrence was 9.3%. A frequent DM site was the lungs, with adenoid cystic carcinoma the most commonly involved histopathological factor. Malignant melanoma was most frequent (43.4%) in all histopathology findings, whereas there were no cases with an acinic cell carcinoma or cystadenocarcinoma. CONCLUSIONS: We found that the occurrence of DM from the primary site as well as rate of incidence was dependent on histopathological factors.

Facial Asymmetry in Nonsyndromic and Muenke Syndrome-Associated Unicoronal Synostosis: A 3-Dimensional Study Based on Facial Surfaces Extracted From CT Scans.

OBJECTIVE: To quantify soft tissue facial asymmetry (FA) in children with nonsyndromic and Muenke syndrome-associated unicoronal synostosis (NS-UCS and MS-UCS), hypothesizing that MS-UCS presents with significantly larger FA than NS-UCS. DESIGN: Retrospective cohort study. PATIENTS AND METHODS: Twenty-one children (mean age: 0.6 years; range: 0.1-1.4 years) were included in the study (NS-UCS = 14; MS-UCS = 7). From presurgical computed tomography scans, facial surfaces were constructed for analysis. A landmark guided atlas was deformed to match each patient's surface, obtaining spatially detailed left-right point correspondence. Facial asymmetry was calculated in each surface point across the face, as the length (mm) of an asymmetry vector, with its Cartesian components providing 3 directions. Mean FA was calculated for the full face, and the forehead, eye, nose, cheek, mouth, and chin regions. RESULTS: For the full face, a significant difference of 2.4 mm (P = .001) was calculated between the 2 groups, predominately in the transverse direction (1.5 mm; P < .001). The forehead and chin regions presented with the largest significant difference, 3.5 mm (P = .002) and 3.2 mm (P < .001), respectively; followed by the eye (2.4 mm; P = .004), cheek (2.2 mm; P = .004), nose (1.7 mm; P = .001), and mouth (1.4 mm; P = .009) regions. The transverse direction presented with the largest significant difference in the forehead, chin, mouth, and nose regions, the sagittal direction in the cheek region, and the vertical direction in the eye region. CONCLUSIONS: Muenke syndrome-associated unicoronal synostosis presented with significantly larger FA in all regions compared to NS-UCS. The largest significant differences were found in the forehead and chin regions, predominantly in the transverse direction.

Deep orofacial phenotyping of population-based infants with isolated cleft lip and isolated cleft palate.

Isolated orofacial clefts (OFC) are common with poorly understood aetiology. Heterogeneous phenotypes and subphenotypes confound aetiological variant findings. To improve OFC phenome understanding, population-based, consecutive, pre-treatment infants with isolated unilateral cleft lip (UCL, n = 183) and isolated cleft palate (CP, n = 83) of similar ancestry were grouped for deep phenotyping. Subphenotypes stratified by gender and cleft severity were evaluated for primary dental malformations and maturation using radiographs. We found that cleft severity and tooth agenesis were inadequate to distinguish heterogeneity in infants with UCL and CP. Both groups featured slow dental maturity, significantly slower in males and the UCL phenotype. In 32.8% of infants with UCL, supernumerary maxillary lateral incisors were present on the cleft lip side, but not in infants with CP, suggesting a cleft dental epithelium and forme fruste cleft dentoalveolus of the UCL subphenotype. The findings underscored the importance of deep phenotyping to disclose occult OFC subphenotypes.

Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.

Oculo-auriculo-vertebral spectrum (OAVS) [MIM:164210], or Goldenhar syndrome, is a developmental disorder associating defects of structures derived from the first and second branchial arches. The genetic origin of OAVS is supported by the description of rare deleterious variants in a few causative genes, and several chromosomal copy number variations. We describe here a large family with eight male members affected by a mild form of the spectrum, mostly auricular defects, harboring a hemizygous ZIC3 variant detected by familial exome sequencing: c.159_161dup p.(Ala55dup), resulting in an expansion of the normal 10 consecutive alanine residues to 11 alanines. Segregation analysis shows its presence in all the affected individuals, with a recessive X-linked transmission. Whole-genome sequencing performed in another affected male allowed to exclude linkage disequilibrium between this ZIC3 variant and another potential pathogenic variant in this family. Furthermore, by screening of a cohort of 274 OAVS patients, we found 1 male patient carrying an expansion of 10 to 12 alanines, a variant previously reported in patient presenting with VACTERL. Loss-of-function variants of ZIC3 are causing heterotaxy or cardiac malformations. These alanine expansion variants could have a different impact on the protein and thereby resulting in a different phenotype within the OAVS/VACTERL.

Delayed maturation and reduced crown width of the permanent first mandibular molar in all subgroups of cleft lip and palate.

OBJECTIVES: Surgical closure of the cleft damages nerves and blood supply in the area and may possibly negatively influence dental development in children with cleft lip and palate (CLP). Previous studies of the permanent first mandibular molar (M1inf ) in children with unilateral complete CLP found delayed maturation and decreased follicle/crown width before any surgical interventions. This study aimed to investigate if these findings are representative for the total population of individuals born with CLP. SETTING AND SAMPLE POPULATION: A population-based consecutive longitudinal sample of 224 children with clefts: 183 with CLP (66 with complete [47 unilateral, 19 bilateral], 117 with incomplete [70 unilateral, 47 bilateral], and 41 with unilateral incomplete cleft lip (controls), was examined pre- and post-lip closure (at 2 and 22 months of age). MATERIAL AND METHODS: In lateral cephalometric X-rays (obtained as part of a standard treatment protocol), M1inf follicle maturation and follicle/crown width were assessed. Mantel-Haenszel test and Pearson's correlation coefficient R were used to describe relationships. Differences between group means were tested using Wilcoxon rank sum test. Significance level was set to 5%. RESULTS: Follicle maturation was significantly delayed in all groups with CLP compared to that in controls (P < .01). Follicle and crown width were significantly reduced in all CLP groups compared with those in controls (P < .01). Sex did not influence these variables. CONCLUSION: Delayed follicle maturation and decreased follicle/crown/tooth size were found to be part of the congenital traits characterizing individuals with all types of CLP and not a result of surgical iatrogenesis.

Diffusion-weighted magnetic resonance imaging of the oral and maxillofacial region: optimal fat suppression method.

OBJECTIVE: To compare 3 fat suppression methods-water excitation (WE), chemical shift selective (CHESS), and short T1 inversion recovery (STIR)-for optimal image quality and apparent diffusion coefficient (ADC) values with magnetic resonance imaging (MRI) using diffusion-weighted imaging (DWI) of the oral and maxillofacial region. STUDY DESIGN: In total, 53 patients with 73 lesions were enrolled in this study. MRI using DWI protocols with the 3 fat suppression methods were performed in addition to a conventional MRI protocol. The diagnostic image quality of lesions, image uniformity, degree of image artifacts, and ADC values of the lesions were evaluated. Average visual scores and ADC values were compared, and post hoc pairwise comparisons were performed, with the level of significance set at P < .0167. RESULTS: Diagnostic image quality was not significantly different among the fat suppression methods (P ≥ .042). Image uniformity was significantly higher (P < .001), and the degree of image artifacts was significantly lower (P < .001), in images using the STIR method. Mean ADC values did not differ significantly among the 3 methods. CONCLUSIONS: The STIR method was the most useful fat suppression method for DWI of the oral and maxillofacial region because of its high level of image uniformity and few image artifacts.

Three-dimensional assessment of facial morphology in children and adolescents with juvenile idiopathic arthritis and moderate to severe TMJ involvement using 3D surface scans.

OBJECTIVE: This study aims to (1) assess the facial morphology in juvenile idiopathic arthritis (JIA) subjects with moderate to severe temporomandibular joint (TMJ) involvement using 3D surface scans and (2) compare the facial morphology in these subjects to that in JIA subjects without TMJ involvement. METHODS: Sixty JIA subjects were included and grouped as follows: group 1 (no involvement group), JIA without TMJ involvement; Group 2 (unilateral group), JIA with moderate to severe unilateral TMJ involvement; and group 3 (bilateral group), JIA with bilateral TMJ involvement. Standard orientation of all surfaces was accomplished. The means and variabilities of facial morphology in groups 2 and 3 were assessed and compared with those of group 1 in three dimensions, respectively. RESULTS: Group 2 (unilateral group) exhibited a more retruded and wider chin, shorter mandibular height, and more prominent cheek (2, 2, 5, and 2 mm, on average, respectively) on the affected side and a more retruded and narrower chin and more prominent malar region (4, 3, and 2 mm, on average, respectively) on the unaffected side compared with group 1 (no involvement group) (p < 0.05). Group 3 (bilateral group) exhibited a more retruded chin, shorter mandibular height, more prominent upper cheeks, and narrower perioral region (5, 5, 3, and 2 mm, respectively) compared with group 1 (no involvement group) (p < 0.05). CONCLUSIONS: In JIA subjects with moderate to severe unilateral or bilateral TMJ involvement, the affected side(s) revealed similar facial dysmorphology with reduced mandibular height, chin retrusion, and prominent upper cheek. CLINICAL RELEVANCE: Three-dimensional surface scans can be a non-ionizing indicator of signs of TMJ involvement in JIA subjects.

Longterm Outcomes of Temporomandibular Joints in Juvenile Idiopathic Arthritis: 17 Years of Followup of a Nordic Juvenile Idiopathic Arthritis Cohort.

OBJECTIVE: To determine the prevalence of orofacial symptoms, dysfunctions, and deformities of the temporomandibular joint (TMJ) in juvenile idiopathic arthritis (JIA) 17 years after disease onset. METHODS: Drawn from a prospective, population-based Nordic JIA cohort with disease onset from 1997 to 2000, 420 consecutive cases were eligible for orofacial evaluation of TMJ involvement. The followup visit included demographic data, a standardized clinical orofacial examination, and full-face cone-beam computed tomography (CBCT). For comparison, 200 age-matched healthy controls were used. RESULTS: Of 420 eligible participants with JIA, 265 (63%) were included (mean age 23.5 ± 4.2 yrs) and completed a standardized clinical orofacial examination. Of these, 245 had a full-face CBCT performed. At least 1 orofacial symptom was reported by 33%. Compared to controls, the JIA group significantly more often reported TMJ pain, TMJ morning stiffness, and limitation on chewing. Further, among participants reporting complaints, the number of symptoms was also higher in JIA. The mean maximal incisal opening was lower in the JIA group (p < 0.001), and TMJ pain on palpation was more frequent. Condylar deformities and/or erosions were observed in 61% as assessed by CBCT, showing bilateral changes in about 70%. Risk factors of condylar deformities were orofacial dysfunction or biologic treatment; enthesitis-related arthritis was protective. CONCLUSION: This study of the longterm consequences of TMJ involvement in a population-based JIA cohort reports persistence of comprehensive symptoms, dysfunctions, and damage of the TMJ into adulthood. We suggest interdisciplinary followup of JIA patients also in adulthood.

Phenotypic variability in Muenke syndrome-observations from five Danish families.

Muenke syndrome is a craniosynostosis syndrome associated with the p.Pro250Arg mutation in FGFR3. An increasing number of individuals with this mutation are reported to not have craniosynostosis. The purpose of this report is to increase awareness of the high phenotypic variability seen in Muenke syndrome. DNA testing for the p.Pro250Arg mutation is routinely performed in Denmark, in children presenting with isolated coronal synostosis. Verified diagnosis entails detailed family history, drawing of family pedigree, DNA testing of the parents, genetic counseling, skull radiographs, clinical photographs, and follow-up. Sixteen individuals from 5 Danish families with Muenke syndrome are presented. Large phenotypic variation was seen both within and across families. The most striking observations were that 6/16 (38%) cases did not have craniosynostosis and one individual presented with a normal phenotype. In addition, 3 unrelated cases had incomplete cleft palate, submucous cleft palate, and bifid uvula, respectively. There is strong evidence for reduced penetrance of the craniosynostosis trait in Muenke syndrome. We argue that many studies on Muenke syndrome have been influenced by ascertainment bias in regard to craniosynostosis. In addition, it is suggested that oral clefting might be part of the clinical spectrum seen in Muenke syndrome.

Spatially Detailed 3D Quantification of Improved Facial Symmetry After Surgery in Children With Unicoronal Synostosis.

OBJECTIVE: To assess improvement of soft-tissue facial symmetry in children surgically treated for unicoronal synostosis (UCS) in infancy, to correlate pre- and postsurgical facial asymmetry and to evaluate whether the improvement was visually recognizable. DESIGN: Case-controlled follow-up. PATIENTS/SETTINGS: Eleven Danish children diagnosed with UCS were included, 3 of whom had tested positive for Muenke mutation. Preoperative computed tomography scans and postoperative 3dMD surfaces were available for measurements. A control group of healthy children matched for age and sex was employed. MAIN OUTCOME MEASURES: Pre- and postsurgical facial asymmetry was analyzed using a computerized method capable of objective and spatially detailed quantification in 3-dimension (transverse, vertical, and sagittal directions). Asymmetry was evaluated in the facial region and 6 subregions (forehead, mouth, eyes, nose, cheek, and chin). RESULTS: The largest significant improvement was seen in the sagittal direction of the facial (1.9 mm), forehead (2.0 mm), and cheek (3.4 mm) regions. Small but significant improvements were also seen in the mouth, chin, and eye regions. No significant improvement was seen in the nose region. Significant correlations were found between the pre- and postsurgically calculated facial asymmetry and between calculated asymmetry and clinical validation scores. CONCLUSIONS: All patients presented with improved facial symmetry after surgery and the improvements were visually recognizable. However, only 1 (9.1%) of the 11 patients reached a level of facial asymmetry as low as that seen in the control group. The best outcome was, in general, seen in cases with mild facial asymmetry presurgically.

Parental age in relation to the severity of cleft lip and/or palate.

OBJECTIVE: To investigate parental age in relation to the severity of cleft diagnosis in a population-based consecutive sample of individuals with clefts. SETTING/SAMPLE: Retrospective, consecutive. MATERIAL/METHODS: The sample comprised 545 consecutive cases with nonsyndromic clefts (437 individuals with cleft lip with/without cleft palate [CL ± P] and 106 individuals with isolated cleft palate [CP]) and parental ages recorded. The groups were subdivided according to the extent/severity of cleft. Unilateral clefts were divided according to left/right sidedness. Logistic regression was used to analyse the association between parental age and risk of severe cleft separately for CL ± P and CP, as well as between parental age and risk of right-sided cleft. RESULTS: In CL ± P, the risk of a complete cleft in the offspring increases with maternal age when the paternal age exceeds approximately 29 years. Moreover, the risk is higher when both parents are old than when both parents are young. In CP, no statistically significant results were identified. However, there were clear trends that indicated a similar pattern as that for CL ± P. No association was identified between increased parental age and the sidedness of clefts. CONCLUSIONS: Parental age seems to contribute to cleft severity, as older parents showed a higher risk of having offspring with a complete cleft than younger parents.

Tooth formation and eruption - lessons learnt from cleidocranial dysplasia.

The principles of formation, renewal, and eruption of teeth are discussed. Numerous genetic aberrations may affect the formation and eruption of teeth. Cleidocranial dysplasia (CCD), caused by mutations in the runt-related transcription factor 2 (RUNX2) gene, is such a condition. The dental phenotype includes problems in both tooth formation (multiple supernumerary permanent teeth) and tooth eruption (lack of shedding of primary teeth and delayed or arrested eruption of permanent teeth). Clinical studies, animal models, and molecular biology studies have documented that RUNX2 is of paramount importance for osteoblast differentiation, for regression of the dental lamina, and for osteoclastogenesis in the dental follicle and the periodontal ligament. Jensen & Kreiborg, 25 yr ago, proposed a treatment strategy to be applied to patients with CCD, focussing on the importance of early treatment to promote spontaneous eruption of permanent teeth through extraction of primary teeth, surgical removal of supernumerary teeth, and removal of bone covering the first formed permanent teeth at the time when root formation of the permanent teeth has reached half or two-thirds of their final length. This strategy still seems valid and seems to lead to reduction in the burden of care for patients compared with the treatment protocols otherwise recommended.