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Managing orthodontic treatment for adults with missing permanent teeth can be intricate, especially when dealing with a posterior scissor bite and an impacted tooth. This case report presents successful treatment of a female patient with dental and skeletal Class II malocclusion, high mandibular plane angle, missing maxillary left lateral incisor and mandibular right first molar, as well as right posterior scissor bite, and a deeply impacted mandibular left second premolar. In the maxilla, the right second molar and right lateral incisor were strategically extracted to eliminate the scissor bite and enhance frontal esthetic balance. In the mandible, the edentulous space caused by early loss of the first molar was successfully closed and the impacted second premolar was guided into its proper position after surgical exposure. Finally, symmetric frontal esthetics, well-aligned dentition with ideal intercuspation and an improved profile were achieved, which remained stable in the 17 month follow-up., (© 2024 by The EH Angle Education and Research Foundation, Inc.)

Objective: POLR3-HLD or 4H leukodystrophy is an autosomal recessive disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, and caused by variants in POLR3A , POLR3B , POLR1C , or POLR3K genes. Neurological and non-neurological clinical features and disease severity vary. While previous studies reference variable cognition, this is the first report of 4H detailing a comprehensive neuropsychological assessment. Method: The current study presents a 20-year-old, English-speaking, right-handed, non-Hispanic White female with 12 years of education with genetically confirmed 4H POLR3B -related leukodystrophy without hormonal replacement treatment. Results: At age 4, developmental delays, ataxia, hearing loss, and abnormal dentition were present. Imaging, endocrinology, and neurologic examinations revealed hypomyelination, reduced cerebellar volume, delayed bone age density, osteopenia, and evidence of adrenarche without signs of true puberty. Neuropsychological assessment at age 20 revealed global cognitive impairment with intellectual, attention, verbal memory retrieval, construction, executive (e.g. processing speed, sustained attention) and math computation deficits, along with behavioral dysregulation. Conclusion: We present the first detailed neuropsychological assessment of a patient with 4H leukodystrophy. The neuropsychological assessment revealed cognitive and behavioral dysexecutive deficits aligning with hypomyelination observed on imaging. Further longitudinal studies are needed to shed light on the neurobehavioral presentation associated with this disorder to assist care providers, patients, and their families.

Background: Mutations in one or multiple genes can lead to hypodontia and its characteristic features. Numerous studies have shown a strong genetic influence on the occurrence of hypodontia, and identified several genes, including AXIN2, EDA, FGF3, FGFR2, FGFR10, WNT10A, MSX1, and PAX9, that are directly associated with dental agenesis and carcinogenesis. The objective of this study was to investigate the occurrence and pattern of tooth agenesis, microdontia, and palatally displaced canine (PDC) in women diagnosed with papillary thyroid cancer (PTC), compared to a control group of women without any malignancy or thyroid disease., Materials and Methods: This case-control study was carried at the Department of Orthodontics, School of Dental Medicine University of Zagreb, and Department of Oncology and Nuclear Medicine Sestre Milosrdnice University Hospital Centre. The study involved a clinical examination and evaluation of dental status, panoramic X-ray analysis, and assessment of medical and family history of 116 female patients aged 20-40 with PTC, as well as 424 females in the control group who were of similar age., Results: The prevalence of hypodontia, microdontia, and PDC was statistically higher in women with PTC than in the control group. The prevalence rate of hypodontia was 11.3% in the experimental group and 3.5% in the control group. The experimental group showed a higher occurrence of missing upper lateral incisors, lower left central incisors, and all the third molars (except the upper left) compared to the control group. Women with PTC showed the prevalence of PDC significantly higher than the control group (3.5%, 0.7%, p = 0.002). The probability of hypodontia as a clinical finding increases 2.6 times, and microdontia occurs 7.7 times more frequently in women with PTC., Conclusion: Our study suggests a possible link between odontogenesis and PTC. The absence of permanent teeth may increase the likelihood of PTC in women. Leveraging the age-7 orthopantomogram to identify women at high risk for PTC within a critical early detection window could significantly improve oral health outcomes and PTC prognosis through proactive interventions., (© 2024. The Author(s).)

Introduction: Hypohidrotic ectodermal dysplasia (HED) patients suffering of oligo-anodontia require early dental treatment to improve oral functions and reduce social impairment. The aim of this study was to evaluate the skeletal growth, implant and prosthetic survival rate, success, and complications after the rehabilitation with a maxillary denture and an implant-supported overdenture provided by a sliding bar in case of severe hypodontia/anodontia related to HED., Materials and Methods: This retrospective cohort study began in 2009. Nine patients over 7 years old with HED and associated oligo-anodontia who presented at the University of Bologna for dental treatment were included in the study. They were first treated with conventional dentures and then with a maxillary denture and an implant-supported overdenture with a sliding bar connected to two implants placed in the anterior mandible. The subjects treated were followed for 3-12 years. In each case, orthopanoramic and lateral cephalometric radiographic exam were taken before implant placement and annually after prosthetic load. Vertical and transverse dimensions of the mandible in the symphysis area at implant sites were taken on the lateral cephalometric radiography at the time of implant placement and after 5 years from the prosthetic loading to assess the presence or absence of an anterior mandibular growth. Biologic and mechanical complications were also recorded at every visit., Results: A mandibular vertical growth under the implant apex, at the implant neck, and a sagittal growth of the symphysis after 5 years from the prosthetic loading were observed and measured. Implant and prosthetic success and survival rates were 100% after 8.1 years (mean) follow-up period. No complications were reported except in one patient, where the repositioning of a retentive cap on the counter bar in the superstructure was necessary after 3 years from the prosthetic loading., Conclusions: The present study suggests that the growth of the mandible near implant sites continues even after their positioning. Implants can be successfully placed and provide support for prosthetic rehabilitation in preteens patients with HED., (© 2023 The Authors. Clinical Implant Dentistry and Related Research published by Wiley Periodicals LLC.)

Background: Congenitally missing tooth is the most common dental abnormality which leaves spaces in the arch, leads to numerous forms of malocclusion due to the Bolton index discrepancy and is even associated with abnormal craniofacial morphology. Even though the roles of malocclusion and tooth loss in temporomandibular disorders (TMD) development remain controversial, basic researches have found some common molecules are involved in osteoarthritis and dental agenesis. However, the association of congenitally missing teeth with TMD is unknown. We hence investigated the association of congenitally missing teeth with TMD., Methods: A cross-sectional analysis of 586 control participants (male: 287, female: 299, 38.33 ± 11.65 years) and 583 participants with non-third molar congenitally missing teeth (male: 238, female: 345, 39.13 ± 11.67 years) who consecutively received routine dental and TMD checkup according to Diagnostic Criteria for Temporomandibular Disorders Axis I in Health Management Center, Xiangya Hospital was performed. Logistic regression analysis was used to study the association of congenitally missing teeth with TMD., Results: The congenitally missing teeth group included 581 hypodontia and 2 oligodontia participants. The congenitally missing anterior teeth participants, the congenitally missing posterior teeth participants and participants with both congenitally missing anterior and posterior teeth accounted for 88.34%, 8.40% and 3.26% of the congenitally missing teeth group respectively. Congenitally missing teeth group had greater ratios of females and orthodontic history. Participants with congenitally missing teeth had a significantly higher prevalence of overall TMD (67.24%) in comparison to control participants (45.90%). After adjusting age, gender, presence of congenitally missing teeth, number of congenitally missing teeth, number of non-congenitally missing teeth, number of dental quadrants with missing teeth, visible third molar and orthodontic history, the variables of age, gender, presence of congenitally missing teeth and number of dental quadrants with missing teeth were significant for overall TMD. Multivariable logistic regression analysis showed congenitally missing tooth was significantly related with overall TMD [odds ratio (OR):1.689(1.080-2.642), P = 0.022], intra-articular TMD [OR: 1.711(1.103-2.656), P = 0.017] and pain-related TMD [OR: 3.093(1.321-7.239), P = 0.009]., Conclusion: Congenitally missing tooth is a risk factor for TMD. When treating the congenitally missing teeth population, TMJ evaluation and multidisciplinary strategies are necessary., (© 2023. The Author(s).)

Objectives: This study aims to investigate the incidence and clinical characteristics of concomitant hypodontia and hyperdontia (CHH) by performing panoramic radiographs., Methods: A total of 41 648 panoramic radiographs of pediatric patients who were admitted to the hospitals from January 2019 to May 2021 were reviewed, and 145 CHH patients were included in the study. The presence of CHH was recorded. SPSS 24.0 software was used for statistical analysis., Results: The prevalence of CHH was 0.35% (145/41 648). Males (102 cases) were obviously more than females (43 cases), and the difference between genders was statistically significant ( P< 0.001). The features of congenital permanent tooth loss in this group were predominantly 1 and 2 teeth missing and preferably mandibular lateral incisors and mandibular second premolars missing. The incidence of congenital permanent teeth loss was higher in the mandible than in the maxilla ( P< 0.001), but no difference was found in the distribution between left and right ( P= 0.84). The features of supernumerary teeth in this group were 1 and 2 teeth, mostly in the maxillary anterior area, mostly conical, mostly vertical inversion and orthotopic growth., Conclusions: CHH is a rare mixed numeric dental anomaly characterized by congenital missing teeth and supernumerary teeth occurring in the same individual. CHH cases are higher in men than in women. The characteristics of their hypodontia and hyperdontia are similar to those of patients with congenital permanent tooth absence or supernumerary teeth. Early diagnosis of the condition and a multidisciplinary approach for management of such case is recommended.

Background: Sjögren's syndrome (SS) is a common systemic autoimmune disease that affects oral health, and consequently oral health-related quality of life (OHRQoL) due to the involvement of exocrine glands., Objectives: The present study aimed to evaluate the oral health-related quality of life and oral health indicators in patients with SS in comparison with healthy individuals., Material and Methods: In the case and control groups (45 patients and 45 healthy individuals), questions about demographic data, other systemic disorders, medications, the years of infection, xerostomia, as well as inquiries about the quality of life (Oral Health Impact Profile-14 - OHIP-14) were asked. The patients were evaluated clinically, and oral health indicators, including the plaque index (PI), the gingival index (GI), the sulcus bleeding index (SBI), and the number of decayed, missing and filled teeth (DMFT) were assessed on the Ramfjord teeth. Unstimulated saliva samples from both groups were obtained and weighed. The data was analyzed using IBM SPSS Statistics for Windows, v. 24.0. Quantitative variables were compared between the case and control groups with the use of the independent t test or their nonparametric equivalent (the Mann-Whitney test)., Results: The comparison of the quantitative variables between the study groups showed a statistically significant difference in the OHRQoL scores (p = 0.037) and the unstimulated saliva flow rate (p = 0.002) between the case and control groups. Also, there was a statistically significant difference in the DMFT index between patients with primary and secondary SS in the case group (p = 0.048)., Conclusions: The lower OHRQoL of patients with SS requires more attention and follow-up to solve periodontal and dental problems in this group of patients.

Background: Tooth agenesis (TA) is the developmental absence of one or more teeth and is the most common craniofacial disorder in humans. Maxillary lateral incisor agenesis (MLIA) is a specific subtype of TA and can have esthetic, functional, and psychosocial implications for patients. The aim of this study was to evaluate the prevalence of MLIA amongst patients with non-syndromic tooth agenesis, as well as its association with other dental anomalies., Materials and Methods: The dental records of 240 patients with non-syndromic congenitally missing teeth treated at the University of Alabama at Birmingham Department of Orthodontics were reviewed. Dolphin Imaging software was used to identify missing teeth, microdonts, peg laterals, impactions, and transpositions. Data were analyzed using chi-square or Fisher's exact test. All the tests were two-sided at the significance level of 0.05 (SAS 9.4)., Results: In the patient cohort, MLIA prevalence was 37.5% (second most common) and no gender or ethnic differences were identified. We also observed the bilaterally missing lateral incisors more frequently than the unilateral presentation (p = 0.0006). Additionally, 62.5% of patients with unilateral MLIA displayed a contralateral tooth that was a peg (p = 0.0001); however, no association was found with other microdonts. Furthermore, of the 90 patients missing at least one maxillary lateral incisor, 42.2% were missing another tooth type and 10% of MLIA patients also had an impacted tooth (mainly maxillary canines). However, these were not statistically significant. Finally, no transposed teeth were found in our patients., Conclusions: This study found that maxillary lateral incisors were the second most frequently missing teeth. When clinicians diagnose congenital absence of a maxillary lateral incisor, the patient should be evaluated for other missing teeth, peg lateral incisors, or potential impactions, especially maxillary canines., (© 2022. The Author(s).)

Hypodontia is commonly associated with cleft lip and/or palate and can be managed by autotransplantation of teeth. In this case report, autotransplantation of the immature mandibular right second premolar to replace the congenitally missing maxillary right second premolar was performed successfully in an 11-year-old Chinese male. An ectopic tooth resembling a premolar tooth was subsequently noted to be developing palatal to the root apex of the transplanted tooth one month after surgery. The development of a dental tooth germ at the site of the autotransplantation post-surgery is a possibility and clinicians should be aware and monitor for such development. The development of a tooth germ post-autotransplantation of an immature tooth could provide a new perspective into tooth organogenesis in patients with agenesis of permanent teeth.

POLR3A encodes the largest subunit of the DNA-dependent RNA polymerase III. Pathogenic variants in this gene are associated with dysregulation of tRNA production and other non-coding RNAs. POLR3A-related disorders include variable phenotypes. The genotype-phenotype correlation is still unclear. Phenotypic analysis and exome sequencing were performed in four affected siblings diagnosed clinically with hereditary spastic ataxia, two healthy siblings and their unaffected mother. All four affected siblings (ages 46-55) had similar clinical features of early childhood-onset hypodontia and adolescent-onset progressive spastic ataxia. None had progeria, gonadal dysfunction or dysmorphism. All affected individuals had biallelic POLR3A pathogenic variants composed by two cis-acting intronic splicing-altering variants, c.1909 + 22G > A and c.3337-11 T > C. The two healthy siblings had wild-type alleles. The mother and another unaffected sibling were heterozygous for the allele containing both variants. This is the first report addressing the clinical consequence associated with homozygosity for a unique pathogenic intronic allele in the POLR3A gene. This allele was previously reported in compound heterozygous combinations in patients with Wiedemann-Rautenstrauch syndrome, a severe progeroid POLR3A-associated phenotype. We show that homozygosity for this allele is associated with spastic ataxia with hypodontia, and not with progeroid features. These findings contribute to the characterization of genotype-phenotype correlation in POLR3A-related disorders., (© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Introduction: Tooth agenesis is often associated with other tooth anomalies, such as microdontia, delayed eruption and ectopic eruption. Moreover, they may be found all in the same individual, as certain genetic mutations may have a variable phenotypic expression. Treatment of cases of hypodontia of anterior teeth should not involve only opening or closing space for prosthetic rehabilitation. Individuals with hypodontia of permanent maxillary lateral incisors may have teeth with a mesiodistal width smaller than that of patients with a normal dentition, and which may need reshaping to achieve an esthetic and functional occlusion., Objective: This clinical case report discusses the association of hypodontia of permanent maxillary lateral incisors with other tooth anomalies and their treatment alternatives.

Aim: The aim of this study was to determine the prevalence of dental developmental disturbances in long-term survivors of childhood malignancies in New Zealand children. This study reports associations with potential risk factors to inform oncologists and dentists of the likelihood of dental abnormalities., Methods: The study population was children aged 14-16 years old who were diagnosed with cancer prior to 10 years of age. A total of 156 children were eligible, of which 59 participated in this study. The indices used in this study were Holtta's Defect Index (HDI), and Oral Health Impact Profile-14 (OHIP-14)., Results: The prevalence of agenesis was 15.3%, microdontia 6.8% and root abnormalities 32.2%. Cyclophosphamide equivalent doses above 8,000mg/m2, stem cell therapy (SCT), and head and neck radiation therapy (HNRT) were associated with a higher mean number of teeth missing due to agenesis. SCT and HNRT were associated with a higher total HDI. A binary logistic regression was carried out to determine the odds of agenesis and found that HNRT was the main contributing factor (OR=7.7, p-value=0.04). The linear regression model found that dactinomycin and agenesis correlated with the largest mean OHIP-14., Conclusion: This study found that childhood cancer survivors in New Zealand had a high prevalence of developmental dental abnormalities and it identified potential risk factors related to their cancer treatment. Inequitable access to oral rehabilitation for this patient group argues for a mechanism for consistent improved access to publicly funded dental care across district health boards in New Zealand., Competing Interests: Dr Shum reports grants from University of Otago during the conduct of the study. Dr Naysmith and Dr Mahoney report grants from NZ Ministry of Health during the conduct of the study.

Previous studies have suggested that pathogenic variants in interferon regulatoryse factor 6 (IRF6) can account for almost 70% of familial Van der Woude Syndrome (VWS) cases. However, gene modifiers that account for the phenotypic variability of IRF6 in the context of VWS remain poorly characterized. The aim of this study was to report a family with VWS with variable expressivity and to identify the genetic cause. A 4‑month‑old boy initially presented with cleft palate and bilateral lower lip pits. Examination of his family history identified similar, albeit milder, clinical features in another four family members, including bilateral lower lip pits and/or hypodontia. Peripheral blood samples of eight members in this three‑generation family were subsequently collected, and whole‑exome sequencing was performed to detect pathogenic variants. A heterozygous missense IRF6 variant with a c.1198C>T change in exon 9 (resulting in an R400W change at the amino acid level) was detected in five affected subjects, but not in the other three unaffected subjects. Moreover, subsequent structural analysis was indicative of damaged stability to the structure in the mutant IRF protein. Whole‑transcriptome sequencing, expression analysis and Gene Ontology enrichment analysis were conducted on two groups of patients with phenotypic diversity from the same family. These analyses identified significant differentially expressed genes and enriched pathways in these two groups. Altogether, these findings provide insight into the mechanism underlying the variable expressivity of VWS.

This case report describes the lingual orthodontic treatment of an adult patient with Angle Class I malocclusion, agenesis of mandibular right central incisor, severe overjet and deep overbite, excessive proclination of maxillary and mandibular incisors, and midline discrepancy. Because of unique presentation, symmetric extraction could not be performed in the lower arch of this 34-year-old patient. She was treated with three premolar extractions and absolute anchorage with temporary anchorage devices for maximum retraction of upper anterior teeth. To correct the midline deviation and Bolton tooth-size discrepancy, the mandibular right lateral incisor, canine, and premolars were reshaped to reduce the mesiodistal width. The treatment approach greatly improved the patient's facial and dental appearance and provided a stable occlusion., (Copyright © 2020 World Federation of Orthodontists. Published by Elsevier Inc. All rights reserved.)

A 24-year-old man presented with a severe skeletal class III malocclusion, associated with an anterior and posterior crossbite in the left side, upper and lower lip eversion, skeletal asymmetry, midline discrepancy, diastemas in the maxillary and mandibular dental arches, and agenesis of maxillary lateral incisors and canines with retained deciduous teeth. Treatment was performed with the use of the Win Lingual System. When the 0.016 × 0.022-inch NiTi archiwire was applied, the deciduous teeth were extracted and replaced with temporary crowns connected to the appliance. After the aligning, leveling, and diastema closure phases, a modified Le Fort II osteotomy, a mandibular setback with a bilateral sagittal split osteotomy and a genioplasty were performed. Implants were placed in the canine site through a flapless guided surgery, and cantilevered temporary bridges were delivered. Final prosthetic rehabilitation included veneers for the central incisors and zirconia-ceramic cantilevered bridges for the canine and lateral incisors. After 36 months of active treatment, the patient showed an Angle Class I molar and canine relationship and an ideal overbite and overjet. His profile had improved, lips were competent, and gingival levels were acceptable. The lateral radiograph and cephalometric analysis showed a good balance of the skeletal pattern, a good profile of the soft tissue, and proper inclinations of the maxillary and mandibular incisors in relation to maxilla and mandible. After 2 years of follow-up, the patient had a pleasant smile and no relapse, or joint or muscular pain., (Copyright © 2019 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.)

Background: GAPO (growth retardation, alopecia, pseudoanodontia, and optic atrophy) as a rare genetic disorder includes growth retardation, alopecia, pseudoanodontia, and optic atrophy. It was reported to be associated with craniosynostosis and intracranial hypertension., Case Report: A patient with such a rare disorder associated with multisuture craniosynostosis and headache is presented. Surgery has been done due to intracranial hypertension., Conclusions: Abnormal intraoperative findings including sever pericranium and dural adhesions and extraordinary bleeding related to this syndrome are described.

Rational: Dental abnormalities can occur at any stage of tooth development. Of these abnormalities, true generalized microdontia is a rare condition in which all teeth are smaller than normal, while hypodontia is defined as the absence of 1 to 5 teeth. As far as we are aware, no article has reported a case of the non-syndromic occurrence of true generalized microdontia with hypodontia., Patient Concerns: A 9-year-old girl who had no systemic diseases presented with congenital absence of maxillary lateral incisors bilaterally and small teeth involving the whole dentition., Diagnoses: Based on intraoral examinations and panoramic radiograph, the patient was diagnosed with the simultaneous occurrence of true generalized microdontia, hypodontia, and a variation of maxillary 1st molar with a single root and single canal. Also, the patient had premature loss of mandibular molars and canines, periapical periodontitis in the mandible left 1st primary molar and deep caries in mandible left secondary primary molar., Interventions: A removable appliance to hold space for early loss of mandibular molars and canines was made at the present stage. The mandible left 1st primary molar had periapical periodontitis and the affected tooth was extracted. Furthermore, the distal surface of the mandible left 2nd primary molar was filled with complex resin materials. A multi-disciplinary therapy plan was carefully designed including orthodontics, dental implants and esthetic restoration in the future., Outcomes: The patient complied well with instructions for wearing the removable space maintainer, which helps prevent mesial migration of the permanent 1st molars, at the current stage. The therapeutic efficiency on periapical periodontitis and caries lesions was also good., Lessons: The non-syndromic presence of true generalized microdontia is extremely rare. A personalized treatment plan with multi-disciplinary considerations should be given for these patients. The pathogenesis remains unclear but may be related to genetic as well as environmental factors. More studies are urgently needed to explore the pathogenesis and treatment options for the future.

Solitary median maxillary central incisor (SMMCI) syndrome is a complex disorder consisting of multiple, developmental defects involving midline structures of the head, which includes the cranial bones, the maxilla, and its container dentition (specifically the central incisor tooth germ), together with other midline structures of the body. SMMCI may appear as an isolated trait or in association with other midline developmental anomalies. We describe the case of a patient with SMMCI. He presented with a solitary median maxillary incisor, short stature, corpus callosum anomalies and a microform of holoprosencephaly (HPE), diabetes insipidus, and neurodevelopmental delay. The diagnosis was performed postnatally based on clinical features, radiological imaging, and a comprehensive genetic study. SMMCI can be diagnosed during the prenatal or neonatal periods or during infancy. Evaluation of the superior maxillary bone is important for prenatal diagnosis. Direct evaluation through bidimensional ultrasound or the use of multiplanar ultrasound or tridimensional reconstruction should be performed in cases of brain or face malformations. Early diagnosis can contribute to improved prenatal assessment and postnatal management., (© 2019 John Wiley & Sons, Ltd.)

Objective: Non-syndromic tooth agenesis (NSTA) may share common genetic factors with non-syndromic cleft lip with or without cleft palate (NSCL/P). Single-nucleotide polymorphisms (SNPs) were associated with individual's susceptibility to these anomalies. We selected five NSCL/P-associated SNPs from our previous genome-wide association study (GWAS) to test for the associations with NSTA., Materials and Methods: A total of 677 NSTA cases and 1,144 healthy controls were recruited in this case-control study. Five genome-wide NSCL/P-associated SNPs (rs2235371, rs7078160, rs8049367, rs4791774, and rs13041247) were genotyped by TaqMan platform and evaluated for the associations with NSTA using plink software., Results: No significant associations between these SNPs and risk of NSTA were observed in the overall analysis and subgroup analysis with the number of missing teeth. However, in the subgroup analysis by tooth position, rs8049367 was nominally associated with mandibular premolar agenesis (Dominant model: OR dom  = 0.66, 95% CI dom  = 0.47-0.93, p dom  = 0.016; Heterozygote model: OR het  = 0.60, 95% CI het  = 0.41-0.88, P het  = 0.008). Rs4791774 showed a nominal association with congenitally missing maxillary canine (Dominant model: OR dom  = 0.53, 95% CI dom  = 0.28-0.98, p dom  = 0.041; Heterozygote model: OR het  = 0.50, 95% CI het  = 0.26-0.97, P het  = 0.041) and premolar (Additive model: OR = 0.59, 95% CI = 0.36-0.96, p = 0.035)., Conclusion: This study showed that NSCL/P susceptible loci rs8049367 and rs4791774 were probably associated with the risk of NSTA., (© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. All rights reserved.)

According to the classification of the World Health Organization (WHO), the most common childhood malignant neoplasms include leukemia, lymphomas, and neoplasms of the central nervous system (CNS) and the sympathetic nervous system. Cancer diseases themselves as well as their treatment carry a high risk of both early and distant effects. The most common dentition disorders resulting from the radiotherapy of the head area and chemotherapy in patients up to the age of 6 years include root agenesis, V-shaped roots, microdontia, hypoplasia of the maxilla and the jawbone, hypodontia, and enamel hypoplasia and hypomineralization. Patients undergoing oncological treatment at the age of <6 years should receive adequate and long-term monitoring due to the possible distant effects of the underlying disease and its treatment. The radiotherapy of the head and neck region performed on a growing patient significantly worsens the patient's prognosis and results in a number of irreversible complications. Planning appropriate orthodontic treatment in such patients contributes to increased comfort later in the patients' lives. Oncology patients do not require special orthodontic procedures; however, the high risk of complications does encourage the planning of orthodontic treatment with the least burden. Dental care for a young patient with a history of oncological disease requires the interdisciplinary cooperation of a pedodontist, orthodontist, prosthetist, and dental surgeon.

Introduction: Dental agenesis is the congenital absence of a variable number of teeth due to the lack of formation of the corresponding tooth germ. The aim of this work was to investigate the syndromic conditions characterized by dental agenesis., Evidence Acquisition: Based on the research conducted through the OMIM® (Online Mendelian Inheritance in Man) and PubMed online databases, more than ninety syndromes associated with severe or moderate agenesis have been found., Evidence Synthesis: The main clinical features of these syndromes are described, especially those concerning the stomatognathic apparatus, referring to the most recent literature. Among these syndromes there are three clinical conditions associated with dental agenesis that are common for the clinician: Down Syndrome, ectodermal dysplasia and labio-palatal cleft., Conclusions: It must be kept in mind that the success of the treatment of these patients is based on the compliance of the patient as well as on the collaboration among specialists.

Lacrimo-auriculo-dento-digital syndrome (LADD) is a rare autosomal dominant disorder arising from heterozygous mutations in the genes encoding fibroblast growth factor receptors two and three and the gene encoding the fibroblast growth factor 10. The characteristics associated with LADD are mainly related with hypoplasia or aplasia of lacrimal and salivary ducts, low cup-shaped ears, sensorineural or conductive hearing loss, abnormalities of teeth, and anomalies of the hands and feet. The purpose of this paper is to describe a 13-year-old female patient with a history of a blocked tear duct, mild hearing loss, congenitally missing teeth, tauro- dontism, and malformation of the fingers who was referred for a dental evaluation. She was diagnosed with LADD syndrome based on her clinical picture. (J Dent Child 2019;86(1):53-60)
Received August 16, 2018; Last Revision November 8, 2018; Accepted November 9, 2018 .

Objectives: The aim of this study is to evaluate the prevalence and distribution of hypodontia, inside and outside the cleft area, in an Italian population with a non-syndromic unilateral (UCLP) and bilateral (BCLP) cleft lip and palate on panoramic radiographs and comparing it with a control sample., Study Design: Case group was ethnically uniform and consisted in 233 patients. The control group was composed of 1000 subjects. Patients included were between seven and fifteen years old. Descriptive analysis, using absolute and relative frequencies, was performed to check out the prevalence of gender distribution, hypodontia and cleft formation. Statistical analysis was conducted with Chi-squared test, Yate's correction and the Fisher's exact test. The power was set higher than 0.8 for each test., Results: 160 cleft patients (68.68%) presented at least one missing tooth, while 88 patients in the control groups presented agenesis (8.80%). A statistically significant difference was found in case and control groups for upper lateral incisors (37.34% and 48.07% in the case group against 2.50% and 2.60% in the control group), upper and lower second premolars (8.58%, 6.44%, 5.58% and 6.01% in the cleft group and 0.60%, 0.60%, 2.50% and 2.70% in the control group)., Conclusion: Higher prevalence of dental agenesis in the maxillary dental arch is explained by the cleft defect. Higher prevalence of mandibular second premolars agenesis cannot be explained by the anatomical defect and suggests a multifactorial aetiology, including environmental and genetic factors, of the cleft condition.

Prader-Willi syndrome (PWS) is a complex disorder that affects multiple systems and may cause craniofacial and dentofacial abnormalities. However, there is still a lack of evidence in the literature regarding the progress of orthodontic treatment in patients with PWS. This case report describes the successful orthodontic treatment of a patient with PWS. A girl, 9 years 0 months of age, who had been diagnosed with PWS had protruding maxillary incisors and a convex profile. Her malocclusion was due to the posteriorly positioned mandible. Screening tests for sleep apnea syndrome showed that she had sleep-disordered breathing, including obstructive sleep apnea and bruxism. We also observed an excessive overjet of 10.0 mm, a deep overbite of 6.8 mm, and the congenital absence of the mandibular second premolars. The patient was diagnosed with an Angle Class II malocclusion and a skeletal Class II jaw-base relationship with a deep overbite. Functional appliance therapy with mandibular advancement, which can enlarge the upper airway and increase the upper airspace, was performed to prevent further deterioration of the patient's obstructive sleep apnea. An acceptable occlusion with a proper facial profile and functional excursion were achieved without interference after comprehensive 2-stage treatment that incorporated orthodontic therapy for the patient's excessive overjet and deep overbite. The resulting occlusion was stable, and the occlusal force and the contact area gradually increased over a 2-year retention period. These results suggest that orthodontic treatment offers the opportunity to greatly improve the health and quality of life of people with PWS., (Copyright © 2018 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.)

Background: The aim of present study was to test the association between hypodontia and displaced maxillary canine when compared with a control group., Methods: The study group was composed of 336 subjects with a mean age of 10.7 ± 1.2 years, presenting with at least one missing tooth. Exclusion criteria included syndromes, craniofacial malformations, extractions and trauma history and previous orthodontic treatment. The control group consisted of 336 subjects with a mean age of 10.7 ± 1.2 years, without agenesis. Stepwise multiple logistic regression using the backwards elimination and the Wald test method was performed to identify the best combination of hypodontia and displaced maxillary canine (P < 0.05)., Results: The most represented category in study group consisted in mild agenesis (86.9%); moderate and severe agenesis groups respectively represented the 11.7 and 1.4% of study group. Agenesis was diagnosed in both arches in 46 subjects. Maxillary hypodontia and mandibular hypodontia was respectively detected in 156 and 134 subjects. The most frequent missing teeth were mandibular second premolars (45.8%), lateral incisors (41.7%) and maxillary second premolars (17.8%). A significant correlation between agenesis and displaced maxillary canine was observed in the study group (P < 0.05). Only the agenesis of maxillary lateral incisors remained in the final model during backward stepwise deletion. Significant association between the severity of dental agenesis and prevalence of displaced maxillary canine was not assessed., Conclusions: The outcomes revealed no difference related to the severity of dental agenesis and prevalence of displaced maxillary canine. Only the agenesis of maxillary lateral incisors should be considered directly connected with displaced maxillary canine.

GAPO syndrome is characterized by growth retardation, alopecia, pseudoanodontia, and ophthalmic abnormalities. This very rarely reported syndrome affects various ethnic groups and can present with manifestations other than those usually reported. Pseudoanodontia is a rare clinical and radiologic manifestation that is always associated with GAPO syndrome. Osteomyelitis of the jaws is a less common disease that is usually attributed to odontogenic causes. This case report describes osteomyelitis of the mandible in a patient with GAPO syndrome. Further, an additional 3 cases of GAPO in the patient's family, with special emphasis on oral mucosal changes and pseudoanodontia, are discussed., (Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.)

Background: Hypodontia and hyperdontia are considered to be at opposite ends of the dental development spectrum. Nevertheless, these anomalies may occur concomitantly (hypohyperdontia)., Case Report: This clinical report describes two case of hypohyperdontia occurring exclusively in the premaxillary region, and the difficulties associated with its diagnosis and management. Following 24 months of follow-up examinations, Case 1 developed a sequential supernumerary tooth in the tooth 35 region., Conclusion: Cases of hypohyperdontia can occur exclusively in the premaxillary region and may be difficult to diagnose. Multidisciplinary treatment planning is essential to facilitate appropriate management, and long-term follow-up is necessary as sequential supernumerary teeth may develop.

The identification of clinical patterns of tooth agenesis in individuals born with craniofacial deformities may be a useful tool for risk determination of these defects. We hypothesize that specific craniofacial deformities are associated with third molar agenesis., Objective: The aim of this study was to identify if third molar agenesis could have a relation with other craniofacial structure alterations, such as cleft lip and palate, skeletal malocclusion, or specific growth patterns in humans., Design: Data were obtained from 550 individuals ascertained as part of studies aiming to identify genetic contributions to oral clefts. 831 dental records of patients aged over eight years seeking orthodontic treatment were also included. SN-GoGn angle were used to classify the growth pattern (hypo-divergent, normal and hyper-divergent), and the ANB angle was used to verify the skeletal malocclusion pattern (Class I, II and III). Panoramic radiographs were used to determine third molar agenesis., Results: A high frequency of third molar agenesis among individuals born with cleft lip with or without cleft palate (55%), as well as among their relatives (93.5%) was found. Third molar agenesis was not associated to skeletal malocclusion or growth pattern., Conclusion: It appears that third molar agenesis is associated with the disturbances that lead to cleft lip and palate., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Background: To determine the frequency of nonsyndromic cleft lip and/or palate (NSCL/P) in first-degree relatives and to analyze the prevalence of tooth agenesis in patients with gastric cancer., Material and Methods: This cross-sectional, observational, case-control study included 798 patients attended at hospital Santa Casa in Montes Claros, Minas Gerais and Alfa Institute of Gastroenterology of the Federal University of the Minas Gerais. Information on basic demographic data and tooth agenesis of both groups and their family history of NSCL/P in first-degree relatives were evaluated. The collected information was stored in a database and analyzed using statistical program SPSS version 21.0 and the values with p<0.05 were considered statistically significant., Results: Of the 798 patients, 113 (14.16%) consisted of the case group and 685 of the control group (85.84%). Non-Caucasian males were the most affected, although no differences among the groups were detected. Of all participants (n=798), 66 (8.27%) presented tooth agenesis and 25 (3.13%) presented oral cleft in first degree relative., Conclusions: Our results no found increase in the frequency of tooth agenesis in patients with gastric cancer and in the frequency of NSCL/P in the first-degree relatives of patients with gastric cancer.

Background: The aim of this study was to investigate the prevalence of tooth agenesis, microdontia, and tooth malformation among non-syndromic oral cleft patients and their potential association with cleft type and gender., Methods: Intraoral records and radiographs of 154 patients (97 males and 57 females) were examined. The variables assessed were tooth agenesis, microdontia, dental malformations, and cleft types. The statistics included chi-square and Fisher's exact tests as well as logistic regression to assess any mutual effects of gender and cleft type on the dental variables., Results: Tooth agenesis occurred in 50% of the sample and microdontia in 18%. Non-statistically significant odds ratios for the association of gender and cleft type with tooth agenesis were obtained. Tooth agenesis was substantially higher at the unilateral right CL + P and the bilateral CL + P in quadrant 1 and at the unilateral left CL + P and bilateral CL + P in quadrant 2. It was also higher, at the isolated cleft palate (CP) in quadrants 3 and 4. These results were attributed to teeth 22 (31.8%) and 12 (21.6%) in the maxilla and to teeth 35 (6.1%) and 45 (5.4%) in the mandible. In unilateral CL + P patients, the cleft quadrant that presented tooth agenesis was associated with the side of the cleft., Conclusions: Interdisciplinary treatment of the oral cleft patients should take into consideration the high prevalence of tooth agenesis and their association with the different cleft types. The most frequently affected teeth by cleft are by far the upper lateral incisors. Results indicate that tooth agenesis appears to be a genetically controlled anomaly related to the orofacial cleft development through various genetic links and not caused by the cleft disruptive process.

Objectives: To evaluate prevalence rates and patterns of permanent tooth agenesis in individuals with non-syndromic Robin sequence (ns-RS)., Material and Methods: Two investigators independently carried out a literature search, using PubMed, Web of Science, Ovid, EMBASE and the Cochrane Library, identifying articles relating to permanent tooth agenesis, diagnosed using panoramic radiographs, in individuals with ns-RS. The outcomes desired were prevalence rates and patterns of permanent tooth agenesis. The final search was carried out in January 2017., Results: Six articles were selected for inclusion, with a total of 448 individuals with ns-RS. Data available in each study varied which allowed conducting further specific meta-analyses only on sample sizes of 339 or 378 individuals from three or four of the six included articles. The overall estimated prevalence rate of permanent tooth agenesis was 42% (95% CI: 35%-48%), excluding third molars, with no sex predilection. In individuals with tooth agenesis, approximately 30% had one missing tooth while 40% had two missing teeth. Tooth agenesis was more commonly bilateral (Relative Risk 2) and found in the mandible (Relative Risk 1.6). The highest prevalence of permanent tooth agenesis was found for mandibular second premolars (26%) followed by maxillary second premolars (14%). The most common tooth agenesis patterns were the agenesis of both mandibular second premolars, followed by the agenesis of all second premolars., Conclusion: Individuals with ns-RS have high prevalence rates of permanent tooth agenesis. The most prevalent tooth agenesis patterns are bilateral symmetric tooth agenesis, most commonly agenesis of both mandibular second premolars., (© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

The relationship between maxillary lateral incisor anodontia and the palatal displacement of unerupted maxillary canines cannot be considered as a multiple tooth abnormality with defined genetic etiology in order to be regarded as a "syndrome". Neither were the involved genes identified and located in the human genome, nor was it presumed on which chromosome the responsible gene would be located. The palatal maxillary canine displacement in cases of partial anodontia of the maxillary lateral incisor is potentially associated with environmental changes caused by its absence in its place of formation and eruption, which would characterize an epigenetic etiology. The lack of the maxillary lateral incisor in the canine region means removing one of the reference guides for the eruptive trajectory of the maxillary canine, which would therefore, not erupt and /or impact on the palate. Consequently, and in sequence, it would lead to malocclusion, maxillary atresia, transposition, prolonged retention of the deciduous canine and resorption in the neighboring teeth. Thus, we can say that we are dealing with a set of anomalies and multiple sequential changes known as sequential development anomalies or, simply, sequence. Once the epigenetics and sequential condition is accepted for this clinical picture, it could be called "Maxillary Lateral Incisor Partial Anodontia Sequence."

This case report describes the treatment of a severe anterior and lateral open bite combined with multiple congenitally missing teeth. A 10-year-old girl presented with an open gonial angle, absence of lip sealing, and soft tissue pogonion retrusion. She had an open bite of 8.5 mm, agenesis of the upper right and left lateral incisors and the upper left first premolar, and transverse maxillary deficiency. Nonsurgical treatment was planned aiming at controlling the vertical pattern, establishing the correct overbite, and closing the spaces on the upper arch, to provide satisfactory occlusion and facial and dental esthetics.

Numerical anomalies, either addition or deletion, are quite a common findings in human dentition. However, it is extremely rare to find both hypodontia and hyperdontia simultaneously in the same individual. This condition is referred as concomitant hypohyperdontia (CHH). Aetiology of this condition is still obscure. The prevalence of CHH has been reported to be between 0.002% and 3.1%. This case report highlights a rare occurrence of bimaxillary CHH represented by the absence of both mandibular central incisors and presence of two supernumerary teeth in the maxillary anterior segment. The rarity of such condition of mixed hypodontia as well as hyperdontia in single human dentition prompted the author to report the case., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Schöpf-Schulz-Passarge syndrome (SSPS) is thought to be a rare autosomal recessive condition similar to many other ectodermal dysplasias. Diagnosis is difficult, with many possible differential diagnoses; however, eyelid cysts are a commonly seen feature. This clinical report aims to highlight this and describe the dental features and management of this syndrome, which existing literature has not previously described., (© 2017 Special Care Dentistry Association and Wiley Periodicals, Inc.)

Bilaterally mandibular and maxillary fourth molars, concomitant to hypodontia, are uncommon. These dental anomalies, called hypohyperdontia, are rare and etiology is not well defined. Several complications may occur as a consequence of supernumerary teeth, such as teeth impaction, resorption of adjacent teeth, and development of cysts and tumors. The authors present an uncommon occurrence of three-fourth molars concomitant to hypodontia and dentigerous cyst associated with impacted mandibular second and third molars in a nonsyndromic patient. The authors attempt to discuss the occurrence of bilaterally fourth molars and reinforce the importance of clinical approach, considering risks and benefits for the patient.

Aim: Surgical and orthodontic treatment of a teenage cleft patient., Case Report: Authors describe the case of a 13 year old female cleft patient presented with class III malocclusion RESULT: The patient underwent comprehensive surgical secondary bone grafting and orthodontic treatment. Stable skeletal and occlusal class I relationship was achived and maintained in the post treatment observation period till the age of 16., Discussion: Although several authors suggests primary gingivoperiosteoplasty, other advocates that such early intervention can cause later restrictions in maxillary growth. For alveolar reconstruction, maxillary growth and dental age were the main considerations in determining the timing of surgical intervention., Conclusion: This case showed that borderline cases of complex dentoalveolar and skeletal anomaly in cleft patients could be successfully treated with comprehensive secondary bone grafting and orthodontic treatment thus avoiding the need for orthognatic surgery., Key Words: Alveolar bone grafting, Cleft, Malocclusion.

Premature ovarian insufficiency has the following causes: genetic, autoimmune, metabolic, infectious, and iatrogenic dysfunctions (including radiotherapy, chemotherapy and surgery). However, premature ovarian insufficiency remains without a definite cause in a substantial number of cases. This article describes GAPO syndrome in association with premature ovarian insufficiency, as well as a novel ANTXR1 gene mutation. Histopathological study of the ovaries of a woman with hypergonadotropic hypogonadism revealed extensive deposition of hyaline extracellular material, with bilateral parenchymal atrophy and follicular depletion. Molecular study revealed a novel ANTXR1 gene mutation. The homozygous c.378 + 3A > G transition at the consensus donor splice site of intron 4 was identified. Our results support the involvement of ANTRX1 gene mutations in deregulated extracellular matrix. In addition, our study identified a novel ANTXR1 mutation causing GAPO syndrome, indicating it as a new cause of early loss of ovarian function.

This study was planned to determine the prevalence of hypodontia in permanent dentition and to test whether an association was present between hypodontia and Angle's malocclusion. The retrospective study was conducted at a tertiary care hospital, Karachi, and comprised record of all patients visiting the orthodontic clinics of the hospital from 2005 to 2015. Orthodontic records of 790(79%) subjects, including 189(23.9%) males and 601(76.1%) females, were reviewed. Their mean age was 17 ± 5.06 years. A tooth was considered missing if no evidence of tooth germ was observed on orthopantomograms and dental casts. The total sample was distributed into three groups on the basis of Angle's classification. Chi-square test was applied to determine an association between hypodontia and Angle's malocclusion. Tooth agenesis was observed in 34(4.3%) and a statistically significant difference was found between the genders (p=0.005). A positive association was found between hypodontia and malocclusion groups. Higher frequency of missing teeth was seen in Class III malocclusion which indicates a great need for orthodontic treatment as it has a psychosocial impact on the quality of life.

The Class III skeletal malocclusion has been traditionally treated with a combined approach of orthodontics and orthognathic surgery or with a strategy of orthodontic camouflage. Some severe cases can be identified as ideal candidates for a surgical treatment whereas some others can be handled with orthodontics alone, with a reasonable expectation of an acceptable result. However, the problem remains for the borderline patient. In fact, limited information is available in the literature regarding the identification of the factors that can help in establishing the limits for one treatment modality or the other. Furthermore, the quantification of some of these factors, for practical purposes, is practically missing or very seldom suggested. Therefore, the decision making process remains a subjective reflection based on the "good clinical sense" of the orthodontist or just reduced to an "educated guess". In order to add some information, hopefully useful in deciding the most suitable treatment option for the individual patient, we propose a clinical protocol based on four different factors. Namely: the skeletal discrepancy, the occlusal discrepancy, the periodontal condition and facial aesthetics. For each one of these factors several parameters will be evaluated and, for some of them, an attempt to provide some reference numerical values will be made. Finally, clinical examples will be presented to illustrate the concepts discussed and the treatment alternatives, final treatment plan and treatment outcome will be analyzed for each one of them., (© EDP Sciences, SFODF, 2016.)

Background: Missing teeth in early childhood can result in abnormal facial morphology with narrow upper airway. The potential association between dental agenesis or early dental extractions and the presence of obstructive sleep apnea (OSA) was investigated., Methods: We reviewed clinical data, results of polysomnographic sleep studies, and orthodontic imaging studies of children with dental agenesis (n = 32) or early extraction of permanent teeth (n = 11) seen during the past 5 years and compared their findings to those of age-, gender-, and body mass index-matched children with normal teeth development but tonsilloadenoid (T&A) hypertrophy and symptoms of OSA (n = 64)., Results: The 31 children with dental agenesis and 11 children with early dental extractions had at least 2 permanent teeth missing. All children with missing teeth (n = 43) had clinical complaints and signs evoking OSA. There was a significant difference in mean apnea-hypopnea indices (AHI) in the three dental agenesis, dental extraction, and T&A studied groups (p < 0.001), with mean abnormal AHI lowest in the pediatric dental agenesis group. In the children with missing teeth (n = 43), aging was associated with the presence of a higher AHI (R (2) = 0.71, p < 0.0001)., Conclusion: Alveolar bone growth is dependent on the presence of the teeth that it supports. The dental agenesis in the studied children was not part of a syndrome and was an isolated finding. Our children with permanent teeth missing due to congenital agenesis or permanent teeth extraction had a smaller oral cavity, known to predispose to the collapse of the upper airway during sleep, and presented with OSA recognized at a later age. Due to the low-grade initial symptomatology, sleep-disordered breathing may be left untreated for a prolonged period with progressive worsening of symptoms over time.

Background/objective: Hypodontia is often seen in people with Down syndrome (DS). In the normal population, persons with hypodontia have a shorter cranial base and a hypoplastic maxilla, leading to a skeletal Class III tendency and a reduced face height. The purpose of this study was to examine craniofacial morphology in patients with DS at different ages and the influence of hypodontia on their craniofacial morphology., Materials and Methods: A comparative cross-sectional study was conducted in 63 children with DS (6-19 years old; 28 males and 35 females) at a Centre for Special Care Dentistry in Rotterdam, the Netherlands (CBT Rijnmond). Digital lateral cephalograms were obtained from all subjects and a cephalometric analysis was performed. The subjects were divided into a group with hypodontia (13 males and 25 females) and a group without hypodontia (15 males and 10 females)., Results: Significant results included a decrease in antero-posterior relationship of upper and lower jaw (ANB angle -0.331° per year, P = 0.044) and a decrease in vertical dimension (S-N&#95;Go-Gn angle -0.72° per year, P = 0.039) over the years in subjects with hypodontia compared to subjects without hypodontia., Conclusion: The process of growth in DS patients is towards a reversed overjet. Hypodontia seems to have an additional effect on this development. The management of hypodontia as part of the complete treatment of dental development in DS children is important because it strongly influences the jaw relationship., (© The Author 2015. Published by Oxford University Press on behalf of the European Orthodontic Society. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

This work aimed to evaluate an alternative form of maxillary expansion anchored with mini-implants. A patient 12 years, class III in permanent canine teeth, with multiple agenesis of upper posterior teeth was treated with the aid of four mini-implants in the palate and Haas modified type appliance. During the period of expansion, an interincisal diastema was observed as the first clinical sign of disjunction of the sutures. After correction of cross bite, the expansion of the palate was confirmed by upper occlusal radiographs. Thus, the evaluations showed that the technique was effective and that new scientific studies should be conducted to further develop this subject. Keywords: Appliances; Biomechanics; Implants; Malocclusions