Dental Agenesis Research Articles

Cleft lip/palate patients’ oral health status: an epidemiological study at a Brazilian pediatric hospital

Cleft lip/palate is a congenital maxillofacial malformation which results from genetic and environmental factors. In Brazil, the prevalence is 1 in every 673 live births. Several alterations result from oral clefts and affects function, aesthetics, and social life. Due to morphofunctional changes, these patients are more susceptible to disorders of the oral cavity. This study aimed to conduct an epidemiological study about alterations of the stomatognathic complex in cleft lip/palate patients at Albert Sabin Pediatric Hospital in Fortaleza, Ceará, Brazil. Files containing medical records, imaging exams and dental models of 64 patients from 2005 to 2017 were analyzed. There was a higher prevalence of males, patients from the countryside and the left unilateral transforaminal cleft subtype. 85.9% of the patients had undergone cheiloplasty and palatoplasty. About 74% of patients had dental agenesis, 71.9% developed the precanine tooth, 26.6% presented dental shape anomalies and 65.6% presented maxillary atresia. The mean DMFT index (decayed, missing, and filled teeth) of the patients was 3.51. These results corroborate and add valuable information to the available literature on cleft lip/palate patients. Our results demonstrate that cleft patients present dental and skeletal alteration that need specialized treatment.

Achieving excellence with interdisciplinary approaches in complex orthodontic adult patients

Over the last decades the percentage of adult orthodontic patients has substantially increased. Undeniably, an important motif for seeking orthodontic care at an older age is smile improvement, but this is not all. Frequently, impaired dentofacial aesthetics are combined with several other issues: severe dentoskeletal malocclusions; multiple tooth loss due to caries or endodontic failure; dental agenesis or trauma; periodontal breakdown; or functional problems, such as temporomandibular disorders or obstructive sleep apnoea. Therefore, comprehensive adult treatment mostly requires close collaboration of a team of equally well-trained dental specialists to select and execute the most suitable treatment option for the individual patient from day one. With joint planning, intensive communication with the patient and the involved specialists, and continuous monitoring of the treatment process, true patient-centred care can be delivered. In order to serve the individual patient best, the treating orthodontist does not only need thorough speciality training and continuing education, but furthermore, should be well-equipped with sufficient knowledge of the other dental fields of expertise. In combination with digital technology as an important tool for enhancing communication and efficient exchange of information between all involved team members, excellent joint clinical skills will take comprehensive interdisciplinary treatment to the next level.

DENTAL AGENESIS OF UPPER LATERAL INCISORS: Case report in a patient from the city of Mato Verde - MG

Dental agenesis or also known as hypodontia, is established as a numerical anomaly that implies a lack of tooth development. The most frequently encountered agenesis, with the exception of third molars, is the upper lateral incisors. The objective of this study was to report a clinical case of agenesis of upper lateral incisors in a patient from the city of Mato Verde-MG. This is a qualitative study with observational/descriptive objectives. The research will be carried out in the municipality of Mato Verde-MG at Faculdade Verde Norte (FAVENORTE). Female patient, Caucasian, ten years old, attended the FAVENORTE clinic, together with her guardian, with the main complaint being: “Assessing the formation of permanent teeth, as she had already been diagnosed with agenesis of the deciduous upper lateral incisors”. On clinical examination it was observed that there was a lack of permanent upper lateral incisors. The radiographic examination confirmed the absence of the germs of the permanent upper lateral incisors, thus confirming the agenesis of these dental elements. Therefore, the patient was referred to the orthodontist, who prepared an individualized treatment plan for the patient. Early diagnosis is extremely important in cases of tooth agenesis, where professionals must pay attention to its characteristics, targeting treatment options for each case, thus obtaining a favorable prognosis and a better quality of life for the patient.

Primary Maxillary Hypoplasia in Complete Unilateral Cleft Lip and Palate: Analysis of Clinical Data and Associations

Objective: Investigate the volumetric differences between the cleft and noncleft hemi-maxillae in patients with complete unilateral CLP and compare them with the average population. It also aimed to correlate the hemi-maxilla volumetry with maxillary sinuses’ volumes, with the occlusal index in digitized models and tooth agenesis. Design: This is a retrospective cohort study. Setting: Cleft lip and palate center in quaternary-level institutions. Patients, Participants: This study included 23 patients with complete unilateral CLP who underwent cheiloplasty between 2008 and 2012 and a control group of 24 patients without craniofacial abnormalities. Interventions: None. Main Outcome Measure(S): The computed tomography scans of cleft patients were analyzed before and after alveolar bone grafting. Following 3-dimensional tomographic reconstruction, a volumetric index was calculated as the ratio of cleft and normal side volumes (CV/NV). Cuts and measurements were also conducted in the control group. Additionally, the volumetric index of the maxillary sinuses (MSCV/MSNV) was calculated, and occlusal index analyses were performed using digitized models. In addition, dental agenesis was observed. Results: The CV/NV relationship was significantly lower in the prealveolar and postalveolar bone grafting periods than in the normal population (P<0.01), confirming primary maxillary hypoplasia in patients with complete unilateral CLP. The CV/NV decreased progressively with worsening occlusal index classifications (P=0.03). No associations were observed between MSV and any of the studied variables. Conclusion: The complex anatomy of patients with complete unilateral CLP impairs treatment outcomes, and maxillary hypoplasia must be considered an important predictive factor.

How successful is the CatBoost classifier in diagnosing different dental anomalies in patients via sella turcica and vertebral morphologic alteration?

BackgroundTo investigate how successfully the classification of patients with and without dental anomalies was achieved through four experiments involving different dental anomalies.MethodsLateral cephalometric radiographs (LCRs) from 526 individuals aged between 14 and 22 years were included. Four experiments involving different dental anomalies were created. Experiment 1 included the total dental anomaly group and control group (CG). Experiment 2 only had dental agenesis and a CG. Experiment 3 consisted of only palatally impacted canines and the CG. Experiment 4 comprised patients with various dental defects (transposition, hypodontia, agenesis-palatally affected canine, peg-shaped laterally, hyperdontia) and the CG. Twelve sella measurements and assessments of the ponticulus posticus and posterior arch deficiency were given as input. The target was to distinguish between anomalies and controls. The CatBoost algorithm was applied to classify patients with and without dental anomalies.ResultsIn order from lowest to highest, the predictive accuracies of the experiments were as follows: experiment 4 < experiment 2 < experiment 3 < experiment 1. The sella area (SA) (mm2) was the most important variable in experiment 1. The most significant variable in prediction model of experiment 2 was sella height posterior (SHP) (mm). Sella area (SA) (mm2) was again the most relevant variable in experiment 3. The most important variable in experiment 4 was sella height median (SHM) (mm).ConclusionsEvery prediction model from the four experiments prioritized different variables. These findings may suggest that related research should focus on specific traits from a diagnostic perspective.

Tooth autotransplantation and resin composite reshaping as a multidisciplinary approach for treating dental agenesia: A 10-year follow-up.

This case report describes the multidisciplinary approach performed in a 9-year-old male patient with dental agenesia affecting teeth 21 and 22. Autotransplantation of the right upper second premolar with incomplete rhizogenesis to the missing area was combined with coronary reshaping with resin composite and orthodontic therapy. The treatment began with the extraction of the deciduous upper left central incisor, bone preparation for the recipient site of the donor tooth, atraumatic extraction of the right upper second premolar and immediate autotransplantation in the surgically prepared recipient site. Subsequently, sutures to reposition the flap and a rigid splint were performed. After 12 months, coronary reshaping of the autotransplanted tooth with resin composite was carried out. Orthodontic treatment involving the use of a fixed appliance was used to correct the interdental spaces and achieve adequate occlusion. Clinical and radiographic follow-up 10 years after tooth autotransplantation and 9 years after reshaping revealed partial obliteration of the pulp chamber, root resorption, ankylosis and the presence of endodontic treatment. The long-term outcomes highlighted that tooth autotransplantation represents a biologically and cost-effective procedure for replacing missing teeth in young patients, particularly in cases of incomplete rhizogenesis of the autotransplanted tooth. This case report discusses tooth autotransplantation and resin composite reshaping as viable and long-term clinical options for treating young patients with dental agenesis.

Genetic Variants of MSX1, PAX9, and AXIN2 in Mayan Probands with Dental Agenesis from Yucatan, Mexico

The present study aimed to determine the genetic variants of PAX9, MSX1, and AXIN2 in Mayan probands with non-syndromic dental agenesis (NSDA) from Yucatan, Mexico. We sequenced DNA of specific exons of the PAX9, MSX1, and AXIN2 genes by using the Sanger method in seven Mayan probands with familial NSDA attending orthodontic clinics in Merida, Yucatan, Mexico. We bioinformatically analyzed four genomes of unaffected people with Mayan ancestry for comparative purposes. Two Mayan probands had oligodontia (14 or 16 missing teeth) and five had hypodontia (1-2 missing teeth). We found the following genetic variants: rs8670 in MSX1; rs12881240 and rs4904210 in PAX9; and rs1060502133, rs1060502139, rs147716924, rs1330822418, rs769741903, rs9915936, rs1133683, and rs1234437759 in AXIN2. The genetic variants in PAX9, MSX1, and AXIN2 in Mayan probands with familial NSDA were benign and have previously been reported. In conclusion, the AXIN2 gene exhibited the highest number of known variants. Because some variants were also present in the genomes of unaffected people, additional functional and epidemiological studies are required to address their clinical significance and associated phenotypes.

Potential Association of Molar-Incisor Hypomineralization (MIH) with Dental Agenesis and Infraoccluded Deciduous Molars: Is MIH Related to Dental Anomaly Pattern (DAP)? An Observational Cross-Sectional Study.

Background: Dental Anomaly Pattern (DAP) is a collection of morphologic, numeric, and eruptive anomalies of teeth that are often observed together, suggesting a potential genetic relationship. Our objective was to assess the potential associations of Molar-Incisor Hypomineralization (MIH), a common developmental defect of enamel mineralization with a controversial etiology, with two specific components of DAP: (1) agenesis (AG) and (2) infraoccluded deciduous molars (IODM). Establishing such an association between MIH and one or both anomalies would provide evidence supporting a genetic link between MIH and DAP. Methods: We examined pretreatment intraoral standardized photographies and panoramic radiographs from 574 children aged 8-14 years, 287 having MIH and 287 without MIH, comparing the frequencies of AG and IODM in both groups. The subject samples were sourced from the databases of the orthodontic department at a university hospital. Results: The frequencies of AG in the MIH and non-MIH groups were 7% and 8%, respectively (p = 0.751). The corresponding frequencies of IODM were 27% and 19.2%, respectively (p = 0.082). That is, children with MIH did not exhibit an increased frequency of AG or IODM compared to those without MIH. Conclusions: These findings do not support the inclusion of MIH in DAP. Nevertheless, further analysis of possible associations is necessary to definitively validate or invalidate this hypothesis.

“Examining the link between tooth agenesis and papillary thyroid cancer: is there a risk factor?” Observational study

BackgroundMutations 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 methodsThis 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.ResultsThe 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.ConclusionOur 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.

An exploration of the enigmatic ponticulus posticus: a cone beam computed tomographic study

During embryonic development, the activity of neural crest cells has the potential to induce the ossification of the posterior atlantooccipital ligament, resulting in the formation of an abnormal bony bridge known as “Ponticulus Posticus” (PP). The presence of PP increases the likelihood of vertebral artery obstruction, and patients with this condition frequently exhibit symptoms of vertebrobasilar insufficiency. Furthermore, connections have been depicted between PP and dental agenesis, malocclusions, and cleft lip and palate. This study assessed the prevalence, morphology, and superior articular facet (SAF) dimensions in PP using Cone Beam Computed Tomography (CBCT). In this retrospective study, SPSS 22.0 was used to analyse 202 cervical CBCT images devoid of pathologies. PP, age, and sex relationship were examined using the t-test and chi2 analysis. Pearson correlation examined the relationship between PP and non-PP SAF dimensional differences. P values &lt;0.05 were significant. The prevalence of PP was 8.4%, with 64.7% constituting complete type and 35.2% partial type. The unilateral partial group’s anteroposterior (D1) and transverse (D2) dimensions showed a strong positive association and significant difference. Understanding this anomaly and the changes it can cause in depth is essential for a clinician to diagnose orofacial pain. Taking into account the benefits of using CBCT enables a detailed evaluation of the vertebral column in three different planes, allowing us to measure the metrical dimensions of SAF precisely in the present study. It can be considered a gold standard in evaluating PP as a diagnostic tool.

Augmented reality in implantology: Virtual surgical checklist and augmented implant placement

ObjectivesAim of the present study was to create a pedagogical checklist for implant surgical protocol with an augmented reality (AR) guided freehand surgery to inexperienced surgeons using a head mounted display (HMD) with tracking. MethodsThe anatomical model of a patient with two missing mandibular teeth requiring conventional single-tooth implants was selected. The computed tomography (CT) scans were extracted and imported into segmentation and implant planning software. A Patient-specific dental splint through an intermediate strut, supported 3D-printed QR code. A checklist was generated to guide surgical procedure. After tracking, the AR-HMD projects the virtual pre-surgical plan (inferior alveolar nerve (IAN), implant axis, implant location) onto the real 3D-printed anatomical models. The entire drilling sequence was based on the manufacturer's recommendations, on 3D-printed anatomical models. After the implant surgical procedure, CT of the 3D-printed models was performed to compare the actual and simulated implant placements. All procedures in the study were performed in accordance with the Declaration of Helsinki. ResultsIn total, two implants were placed in a 3D-printed anatomical model of a female patient who required implant rehabilitation for dental agenesis at the second mandibular premolar positions (#35 and #45). Superimposition of the actual and simulated implants showed high concordance between them. ConclusionAR in education offers crucial surgical information for novice surgeons in real time. However, the benefits provided by AR in clinical and educational implantology must be demonstrated in other studies involving a larger number of patients, surgeons and apprentices.

A study of tooth agenesis in a sample of Malagasy orthodontic patient

The aim of this study was to describe the specific features of dental agenesis in Malagasy people. A retrospective cross-sectional study was conducted in two private orthodontic clinics in the city of Antananarivo, Madagascar. A total of 72 panoramic radiographs of patients aged more than 7 years old and undergoing orthodontic treatment between January 2008 and September 2022 were examined. Dental agenesis was declared in the absence of crown mineralization on the radiograph. Wisdom teeth agenesis was not considered in this study. Data were collected, coded, processed, and analyzed using SPSS 20.0 software. Statistical significance was set at p &lt; 0.05. A significant predominance of females (72.2% vs. 27.8%) was observed among subjects with tooth agenesis (p &lt; 0.000). The mandible was the most affected arch (57%). The mandibular lateral incisor (83%) was the most frequently absent tooth, followed by the maxillary lateral incisor (69.3%) and the mandibular second premolar (12.2%). Dental position anomalies associated with agenesis included impacted tooth (41.7%) and tooth transposition (4.2%). The general characteristics of tooth agenesis in our study population did not show any major differences compared to previous researches in other countries. However, a difference linked to ethnic origin was observed regarding the type of tooth most frequently affected by agenesis.

Exploring the association between PITX2, third molars agenesis and sella turcica morphology

ObjectivesPITX2 is required for mammalian development and single nucleotide polymorphisms (SNPs) in this gene could be involved in dental agenesis and sella turcica patterns. Thus, the present study evaluated the association between SNPs in PITX2, third molars agenesis and sella turcica phenotypes.Materials and methodsThe sample consisted of healthy orthodontic German patients with lateral cephalometric radiographs with clearly visualization of the sella turcica, and dental orthopantomograms. The morphological variations of the sella turcica were evaluated using the lateral cephalograms, while third molar agenesis was evaluated using orthopantomograms. DNA isolated from buccal cells was used for genotyping three SNPs in PITX2 (rs3796902, rs1947187, and rs2595110). The analyzes were performed using a significance of 5%. There was no association between third molar agenesis and sella turcica phenotypes (p > 0.05). SNPs in PITX2 were also not associated with third molars agenesis (p > 0.05).ResultsSNPs in PITX2 were associated with sella turcica phenotypes. The rs3796902 was associated with hypertrophic posterior clinoid process (p = 0.013). The rs1947187 and rs2595110 were associated with sella turcica bridge type A (p = 0.013 and p = 0.011, respectively for genotype distribution). Patients that carry the genotypes GG-CC-AG (rs3796902- rs1947187- rs2595110) had 7.2 higher chance to present sella turcica bridge type A (p = 0.002; Odds ratio = 7.2, Confidence interval 95% 2.04–27.04).ConclusionsThird molar agenesis was not associated with SNPs in PITX2 and sella turcica phenotypes. SNPs in PITX2 may have an important role in sella turcica pattern.

The impact of craniofacial and dental osteogenesis imperfecta manifestations on oral health-related quality of life of children and adolescents.

Craniofacial and oral manifestations of Osteogenesis Imperfecta (OI) can affect the functioning of the stomatognathic system and impact the patient's quality of life. The objective of the study was to evaluate the relationship between craniofacial and oral manifestations and the Oral Health-related Quality of Life (OHRQoL) of OI children and adolescents. A total of 30 OI patients aged eight to fourteen years old followed up at the Oral Care Center for Inherited Diseases were enrolled in the research. OHRQoL was assessed using the short form of the Child Perceptions Questionnaire (CPQ) for eight to ten-year-olds (CPQ8-10) and 11 to 14-year-olds (CPQ11-14). The relationship between the OHRQoL index and its assessment domains, OI types, and the presence of dentinogenesis imperfecta (DI), class III malocclusion, and dental agenesis were evaluated. The median CPQ score of patients was 5, and there was no significant difference in OHRQoL between children and adolescents, nor associated with the disease severity or the presence of DI. The oral manifestations evaluated did not directly impact the patients' OHRQoL. The study demonstrated that the perception of OHRQoL is similar for both adolescents and children. The oral symptom was the most relevant domain for the index among patients aged eight to fourteen years while the emotional well-being was the most impacted. this study makes contributions by indicating that addressing dental care for children and adolescents with OI is important in clinical management and better OHRQoL for this population.

Lipoid Proteinosis, Its Symptoms, and Oral Manifestations: A Case Report and Review of Literature

Introduction: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is an autosomal recessive disorder characterized by the deposition of glycoproteins in mucous membranes, skin, and organs. Symptoms typically begin in childhood, persist throughout life, and encompass hoarseness, skin inflammation, scarring, and ulcers, resulting in a waxy appearance. Oral manifestations present as white plaques and ulcers, significantly impacting the oral cavity. To date, approximately 400 cases have been reported worldwide. Case Presentation: Herein, we present the case of a 36-year-old female diagnosed with LP who sought a dental implant evaluation. Her medical history revealed tooth decay, which necessitated extractions, and she had previously undergone maxillary implant placement and mandibular bone grafting. Upon general examination, the patient exhibited voice hoarseness, hyperkeratosis on the elbows and hands, and papules on the fingers. Oral examination revealed firm and fibrotic mucosa, papillomatosis, and limited mouth opening. Hyposalivation and the absence of the left parotid duct orifice were noted. No significant abnormalities were observed on the eyelids or face. Salivary gland assessment indicated a reduced flow rate (1 ml in 5 minutes). This case highlights the importance of conducting a comprehensive evaluation and tailoring management strategies to the individual needs of patients with LP. Conclusions: Lipoid proteinosis is a rare mucocutaneous disorder characterized by a slow and benign course, with varying prevalence in different regions. Early recognition of oral symptoms is crucial, as they often precede skin and neurological manifestations. Although typical oral signs usually include tongue firmness and an inability to protrude, these were not observed in the present case. Xerostomia and dental agenesis, though uncommon, have been reported in previous cases, consistent with the findings of the present case, although different areas of the oral cavity might be involved in some instances.

The prevalence of dental agenesis among children with cleft lip and palate patients in Lahore, Pakistan.

This retrospective, cross-sectional analytical study investigated the incidence of tooth agenesis in cleft lip and palate (CLP) patients. Cone Beam Computed Tomography (CBCT) radiographs of the CLP children were examined for congenitally missing teeth. This study was conducted at three radiology centers in Lahore, namely, the Pakistan Jinnah MRI and Body Scan Centre, the University of Lahore Radiology Centres, and Fatima Memorial Hospital, from September 2021 to August 2022. The CLP patients were divided into four groups based on the location of the cleft: Cleft Lip and Palate Right (CLPR), Cleft Lip and Palate Left (CLPL), Bilateral Cleft (CLPB), and Midline Cleft (CLPM), inside and outside the cleft region. Two-way ANOVA was employed to compare the means of agenesis. Tukey's test was utilized to ascertain where the difference lies. The significance level was set at p ≤ 0.05. Moreover, a significant number of missing teeth were found inside the cleft. This study observed the CLPL (42.3%) and CLPR (13.6%) types more in number. Maxillary first premolars were found more missing outside the cleft region in CLPL and CLPB types. Although CLPB and CLPM types revealed a pattern of missing teeth, only a few cases were found in this study. Moreover, mean tooth agenesis was highest (4.5 SD.71) in the CLPM group, followed up by CLPB (2.75 SD 2.49), CLPR (1.23 SD 1.27), and CLPL Group (1.15 SD 1.12). Unilateral cleft lip and palate patients reported significant agenesis patttern compared to bilateral and median cleft cases.

REHABILITATION OF AGENESIA 2.2 WITH PRAM INVOLVEMENT. CASE REPORT

Dental implants in dental agenesis are an effective and sustainable solution for replacing missing teeth in patients who have not developed some or more teeth permanently. Dental agenesis is a condition in which one or more teeth do not form or erupt normally. In the case of dental agenesis, dental implants can be used to replace missing teeth, giving the patient an aesthetic smile and the necessary functionality during chewing and speaking. Here are some important discussions about dental implants in the dental agency: Individual evaluation: Each patient with dental agenesis will be evaluated individually by the dentist. Issues such as the number and position of missing teeth, bone quality, and patient orofacial structure will be analyzed. The personalized treatment of each patient with dental agenesis has a unique situation, and the treatment of dental implants is personalized according to the needs and anatomy of the patient. Dental implants offer a predictable and sustainable treatment option. The stability of dental implants is anchored directly in the jaw or mandibular bone, providing stability and functionality similar to natural teeth. This allows patients to chew and speak without discomfort or restrictions. Aesthetic dental implants can be designed to match the teeth and shape of the patient's face, thus contributing to the nature of the aesthetics of the smile. They can be made with high quality materials and can be customized according to the color and shape of the patient's teeth. Preserving the bone structure of dental implants helps maintain the health of the jaw bones

Evaluation of the prevalence of dental agenesis through the use of orthopantomography in a sample of subjects residing in Lombardy and Piedmont regions.

Dental agenesis is one of the most frequent dental anomalies, with a prevalence varying from 1.6% to 36.5%, depending on the populations studied. The patient's age at diagnosis, sex, and ethnic differences are considered possible influenting factors that can explain such a wide range of prevalence. The objective of the study was to define the frequency of dental agenesis in a sample of subjects living in Piedmont and Lombardy regions of Italy. X-rays, already taken for other diagnostic purposes, were collected. Orthopantomographies belonging to subjects born after 1995 and aged between 7.9 and 16.9 years were selected. It was assessed the presence of each tooth, except for third molars since they are frequently absent due to their variability. If a tooth was missing and the patient had additional radiographs, the other radiographs were evaluated to confirm the diagnosis or to rule out a delayed calcification or the presence of a malposition tooth. Orthopantomographies were collected from 1,020 subjects and 98 of them presented agenesis, with a prevalence of 5% for females and 4.61% for males. The most affected teeth were 35 and 45, followed by 12 and 22. The lower arch was more frequently involved by agenesis: there were 107 teeth absent in the mandibular arch and 83 in the maxillary arch.

Abstract 13325: Novel Heterozygous EFEMP2 Variant Detected in a Patient With Bilateral Internal Carotid Artery Dissection and Oligodontia

Cutis laxa is a rare connective tissue disorder characterized by sagging or inelastic skin. This phenotype is caused by multiple genotype variants. Biallelic variants in the EFEMP2 gene cause cutis laxa subtype IB characterized by aortic aneurysm, arterial tortuosity, arterial stenosis, joint laxity, arachnodactyly, emphysema, and retrognathia. EFEMP2 encodes fibulin-4, an extracellular matrix protein involved in elastogenesis and modulation of TGF-beta signaling. To date, monoallelic variants in EFEMP2 have not been described as pathogenic. Furthermore, oligodontia has not been associated previously with variants in EFEMP2 . We describe a 67-year-old male with a past medical history of left distal internal carotid artery (ICA) pseudoaneurysm and dissection, right distal ICA dissection, arterial tortuosity, and oligodontia who was found to have a heterozygous variant of uncertain significance in EFEMP2: c.1279_1289del11, p.Arg427CysfsX27. The variant has not been observed previously in large population cohorts and causes a shift in reading frame that substitutes the carboxyl terminal 17 amino acids with 26 alternative amino acids. This carboxyl terminal variant of EFEMP2 has been predicted to interact with PITX2 in yeast two-hybrid analyses. Furthermore, variants in PITX2 have been associated with dental agenesis, including oligodontia. We hypothesize that heterozygous variants in EFEMP2 represent a new syndrome characterized by arteriopathy and dental agenesis.

Dental and jawbone abnormalities linked to amelogenesis imperfecta: A retrospective and analytic study comparing panoramic radiographs.

Amelogenesis Imperfecta (AI) is a disorder of tooth development characterized by abnormal enamel formation. In order to detect other dental and jawbone abnormalities that could be associated with AI, a retrospective and analytic study was conducted comparing panoramic radiographs of AI and non-AI patients. Digital panoramic radiographs of 60 AI and 60 non-AI patients were examined. Abnormalities in dental number, size, shape, eruption, and in the shape of the dental arches were checked and blindly recorded by two experimented observers. Descriptive statistics using percentages and chi-square test with .05 level of significance value was used. Prevalence of supernumerary teeth, dental agenesis, microdontia, taurodontism, radicular dilacerations, dental inclusions, temporary teeth persistence, and pulp calcifications was significantly higher in AI patients compared to control patients. Prevalence of periapical images, cysts, and hypercementosis was lower in AI patients compared to control patients, with no statistically significant difference. A significant prevalence of mandibular hypoplasia was also noted in AI patients. In addition to enamel defect, panoramic radiography was useful in detecting other dental abnormalities and mandibular hypoplasia associated with AI and should therefore be systematically indicated for AI patients' care.