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15 pages, 857 KiB  
Article
Evaluation of Morphology and Prevalence of Palatoradicular Grooves on Affected Maxillary Anterior Teeth Using Cone-Beam Computed Tomography: An Institutional Retrospective Study
by Dilara Baştuğ and Leyla Benan Ayrancı
Appl. Sci. 2025, 15(14), 8031; https://doi.org/10.3390/app15148031 - 18 Jul 2025
Viewed by 223
Abstract
This retrospective study aimed to evaluate the prevalence, morphological types, and distribution patterns of palatoradicular grooves (PRGs) in maxillary anterior teeth using cone-beam computed tomography (CBCT) in a Turkish population. CBCT images of 1553 patients from the radiology archive of Ordu University Faculty [...] Read more.
This retrospective study aimed to evaluate the prevalence, morphological types, and distribution patterns of palatoradicular grooves (PRGs) in maxillary anterior teeth using cone-beam computed tomography (CBCT) in a Turkish population. CBCT images of 1553 patients from the radiology archive of Ordu University Faculty of Dentistry (2021–2022) were reviewed. A total of 920 patients (4012 teeth) met the inclusion criteria. The presence, type, and localization of PRGs were assessed. Groove types were classified as Type 1, 2, 3A, or 3B; localization was recorded as mesial, distal, or midpalatal. Bilateral and unilateral occurrences were also analyzed. Statistical analysis involved chi-square tests, Tukey’s HSD, and Cohen’s kappa for intra-observer reliability. PRGs were detected in 23.6% of patients and 10.42% of teeth. Lateral incisors were most affected (87.56%). Type 1 grooves were most common (71.53%), with midpalatal localization being most frequent (54.07%). Bilateral grooves were significantly more prevalent than unilateral ones (p < 0.001). No significant association was found between groove type and tooth type or between gender and bilaterality. This study revealed a high prevalence of PRGs, especially in maxillary lateral incisors, with a significant tendency toward bilateral and midpalatal presentation. CBCT proved essential for detecting palatoradicular grooves, aiding diagnosis and treatment. Full article
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20 pages, 777 KiB  
Article
Multidisciplinary Approaches to Tongue Thrust Management in Australia: An Exploratory Study
by Sharon Smart, Julia Dekenah, Ashleigh Joel, Holly Newman and Kelly Milner
Int. J. Orofac. Myol. Myofunct. Ther. 2025, 51(2), 7; https://doi.org/10.3390/ijom51020007 - 14 Jul 2025
Viewed by 526
Abstract
Background/Objectives: Tongue thrust (TT) occurs when abnormal tongue movements cause anterior tongue placement with pressure and contact against or between the teeth, potentially affecting the oral phase of swallowing, impacting eating, breathing and speaking. There is limited literature on the diagnostic and treatment [...] Read more.
Background/Objectives: Tongue thrust (TT) occurs when abnormal tongue movements cause anterior tongue placement with pressure and contact against or between the teeth, potentially affecting the oral phase of swallowing, impacting eating, breathing and speaking. There is limited literature on the diagnostic and treatment approaches for TT, as well as involvement of health practitioners in its management. This study aims to examine the current knowledge and practices related to TT diagnosis and treatment among health professionals in Australia. Methods: A two-phase explanatory sequential mixed methods approach was adopted, comprising an online survey that collected participants’ demographic information and details on assessment, diagnosis, management, referral practices, and relevant experience and training. Phase one involved 47 health professionals from various disciplines in Australia who completed an online survey in its entirety. Phase two included in-depth interviews with seven speech-language pathologists (SLPs) to gain further insights into their experiences in managing TT. Survey data were analysed descriptively, and interview data was analysed thematically. Results: Most participants diagnosed TT using clinical assessments, such as general observation and oral motor examinations. Treatment approaches commonly included orofacial myofunctional therapy and the use of myofunctional devices. Interviews with SLPs identified four key themes: tongue thrust as a symptom rather than a diagnosis, facilitators to effective treatment, multidisciplinary approaches to management, and training and education gaps in clinical practice. Conclusions: This study provides valuable insights into how TT is identified, assessed, diagnosed, and managed by health professionals in Australia. It highlights the perspectives of SLPs on treatment approaches, as well as their views on the availability and adequacy of training and education in this field. The findings suggest the need for a broader understanding of TT management, emphasising the importance of multidisciplinary collaboration and professional development. These insights are globally relevant, as they stress the shared challenges and the value of international collaboration in improving TT diagnosis and treatment practices. Full article
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10 pages, 5450 KiB  
Case Report
Application of a Conservative Prosthodontic Approach in the Rehabilitation of a 10-Year-Old Child with Hypohidrotic Ectodermal Dysplasia
by Abdulfatah Alazmah
Healthcare 2025, 13(13), 1543; https://doi.org/10.3390/healthcare13131543 - 28 Jun 2025
Viewed by 354
Abstract
Background/Objectives: Hypohidrotic ectodermal dysplasia (HED) is a rare hereditary disorder affecting ectoderm-derived tissues including teeth, hair, and sweat glands. The dental abnormalities associated with HED, such as oligodontia and conical teeth, often result in significant functional, esthetic, and psychosocial challenges, particularly during [...] Read more.
Background/Objectives: Hypohidrotic ectodermal dysplasia (HED) is a rare hereditary disorder affecting ectoderm-derived tissues including teeth, hair, and sweat glands. The dental abnormalities associated with HED, such as oligodontia and conical teeth, often result in significant functional, esthetic, and psychosocial challenges, particularly during childhood. Methods: A 10-year-old child presented with psychosocial concerns related to missing and malformed teeth. Clinical examination revealed oligodontia, conical anterior teeth, and a resorbed mandibular ridge. Based on clinical findings and a positive family history, a diagnosis of HED with significant dental involvement was confirmed. Results: A conservative prosthodontic approach was selected. A maxillary overdenture was fabricated over the retained primary teeth to enhance retention and preserve the alveolar bone, and a resin-bonded bridge was placed in the mandible due to poor ridge anatomy. The treatment restored oral function and esthetics and improved the child’s self-esteem. A recall visit after three months confirmed good prosthesis adaptation and a positive response from the patient and parents. Conclusions: This case highlights the importance of early, conservative, and developmentally appropriate prosthetic rehabilitation in pediatric patients with HED. Interim prostheses can significantly improve oral function, appearance, and psychosocial well-being while preserving future treatment options as the child matures. Full article
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22 pages, 3856 KiB  
Article
Rabbit Dental Abnormalities: Investigation of Conformational Risk Factors in a Pedigree Rabbit Population
by Maria A. Jackson, Michaela Betts, Joanna Hedley and Charlotte C. Burn
Animals 2025, 15(7), 980; https://doi.org/10.3390/ani15070980 - 28 Mar 2025
Viewed by 2043
Abstract
Lop-eared and brachycephalic conformations have inconsistently been associated with dental abnormalities in pet and rescue rabbit populations. We investigated conformational risk factors for dental abnormalities in a pedigree population where conformation could be confirmed. Otoscopic oral examination was performed on breeder-volunteered pedigree rabbits [...] Read more.
Lop-eared and brachycephalic conformations have inconsistently been associated with dental abnormalities in pet and rescue rabbit populations. We investigated conformational risk factors for dental abnormalities in a pedigree population where conformation could be confirmed. Otoscopic oral examination was performed on breeder-volunteered pedigree rabbits at British Rabbit Council shows and studs. Multivariable models were used for risk factor analysis of 14 possible dental disease signs. In 435 rabbits examined, 68.28% showed no incisor abnormalities and 55.40% showed no cheek teeth abnormalities. Lop-eared rabbits had higher odds than erect-eared rabbits for ocular discharge (odds ratio [OR]: 4.034, p = 0.007) but not for any dental abnormalities. Erect-eared rabbits showed higher odds of reacting to incisor examination than lop-eared rabbits (OR: 1.666, p = 0.003). Brachycephaly showed no associations with dental abnormalities, whilst more dolichocephalic rabbits had increased odds of cheek teeth step or wave mouth (OR: 1.394, p = 0.004). Other conformational and signalment-related risk factor results were mixed. Brachycephaly showed no significant predisposition to dental abnormalities, and the clinical relevance of predisposition to ocular discharge in lop-eared rabbits is unclear. Conformation appears less important than husbandry factors for preventing rabbit dental disease. Generalising the results to companion rabbits is not advised due to husbandry and population differences. Full article
(This article belongs to the Section Companion Animals)
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6 pages, 1378 KiB  
Case Report
Triple Tooth in Primary Dentition: A Rare Case Report
by Maria Teresa Xavier, Sara Rosa, Ana Daniela Soares, Inês Nunes, Bárbara Cunha and Ana Luísa Costa
Children 2025, 12(4), 395; https://doi.org/10.3390/children12040395 - 21 Mar 2025
Viewed by 699
Abstract
The occurrence of triplication in the deciduous teeth is rare. However, it can cause several problems in primary dentition, alteration of development, and eruption of permanent successors. Case Presentation: A three-year-old boy presented with an exuberant acute periapical abscess in the left [...] Read more.
The occurrence of triplication in the deciduous teeth is rare. However, it can cause several problems in primary dentition, alteration of development, and eruption of permanent successors. Case Presentation: A three-year-old boy presented with an exuberant acute periapical abscess in the left front teeth region of the upper jaw. Examination revealed a presence of a triple tooth involving the central and lateral left primary incisors and a supernumerary tooth. Radiographs showed that the fused teeth had separate roots, pulp chambers and root canals. The implemented treatment was extraction under local anesthesia. After 2 years of observation, surgical exposure of the crowns of the permanent maxillary central incisor was performed. After seven years, the permanent dentition was completed without any sequelae. Discussion: Triple tooth, as observed in this case report, results from the union of three tooth germs, potentially influenced by physical, hereditary, or environmental factors, leading to esthetic and functional issues and increased susceptibility to caries. Treatment is challenging, requiring preventive care, complex endodontic procedures, and, in some cases, extraction with space maintenance to avoid future orthodontic complications. Conclusion: Early diagnosis, an adequate treatment plan and clinical monitoring should be performed, aiming at preventing the possible disturbances. Full article
(This article belongs to the Section Pediatric Dentistry & Oral Medicine)
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3 pages, 1089 KiB  
Interesting Images
A Second Residual Tooth Occurring from One Tooth
by Tatsuya Akitomo, Mariko Kametani, Yuko Iwamoto, Chieko Mitsuhata and Ryota Nomura
Diagnostics 2025, 15(6), 733; https://doi.org/10.3390/diagnostics15060733 - 14 Mar 2025
Viewed by 691
Abstract
In clinical pediatric dentistry, dental professionals may encounter some dental abnormalities. It may progress in various ways; therefore, long-term follow-up is essential. We describe the case of a 5-month-old male, and how the mandibular incisor was lost due to trauma. He was referred [...] Read more.
In clinical pediatric dentistry, dental professionals may encounter some dental abnormalities. It may progress in various ways; therefore, long-term follow-up is essential. We describe the case of a 5-month-old male, and how the mandibular incisor was lost due to trauma. He was referred to our hospital two days later, but the calcified tissue was detected in the oral cavity, confirming the residual tooth. We extracted the tooth, and a regular dental checkup revealed another residual tooth in the same region one year later. A residual tooth is considered to be affected by the Hertwig’s epithelial sheath, and it may occur when the root is immature. It is important for dental professionals to share this information and to continue long-term follow-up when they encounter patients at young ages who have had such teeth extracted or lost due to trauma. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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10 pages, 405 KiB  
Article
Smith–Lemli–Opitz Syndrome: Oral Characteristics and Risk Factors for Caries Development
by Dorota Olczak-Kowalczyk, Aneta Witt-Porczyk, Paula Piekoszewska-Ziętek and Małgorzata Krajewska-Walasek
Biomedicines 2025, 13(3), 574; https://doi.org/10.3390/biomedicines13030574 - 25 Feb 2025
Viewed by 728
Abstract
Background/Objectives: Smith–Lemli–Opitz syndrome is a metabolic autosomal recessive disease, characterized by congenital defects, with concomitant psychomotor developmental delay. The symptoms are variable and depend on the clinical form of the disease. The aim of this study was to assess the prevalence and [...] Read more.
Background/Objectives: Smith–Lemli–Opitz syndrome is a metabolic autosomal recessive disease, characterized by congenital defects, with concomitant psychomotor developmental delay. The symptoms are variable and depend on the clinical form of the disease. The aim of this study was to assess the prevalence and types of oral abnormalities in children and adolescents with Smith–Lemli–Opitz syndrome. Methods: The study enrolled 30 patients, including 15 subjects with Smith–Lemli–Opitz syndrome, confirmed by a genetic examination. We performed an extra- and intraoral examination, paying attention to the presence of dysmorphic features, including the shape and symmetry of the face; the condition of the skin and lips; the gingival and hygienic status; dental caries; lesions of non-carious origin; abnormalities of size, shape, and number; and alignment of teeth in the dental arch. Results: Patients in the study group presented with micrognathia, a short neck, ptosis, and an upturned nose. More frequently than in the control group, we observed occlusal abnormalities and dental crowding, anatomical abnormalities or gingivitis. The prevalence of dental caries in both groups was similar; however, the study group recorded higher dmft and DMFT values. Conclusions: The phenotypic features of patients with Smith–Lemli–Opitz syndrome increase their risk of developing dental caries and gingivitis. Full article
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12 pages, 1451 KiB  
Article
Does the Phase-One Functional Therapy Increase the Risk of an External Apical Root Resorption Following the Phase-Two Fixed Orthodontic Treatment? A Pilot Study
by Sara Eslami, Jakob Stuhlfelder, Suh-In Rhie, Sarah Bühling, Mauricio Gonzalez Balut, Ludovica Nucci, Abdolreza Jamilian and Babak Sayahpour
Dent. J. 2025, 13(3), 95; https://doi.org/10.3390/dj13030095 - 24 Feb 2025
Viewed by 861
Abstract
Background: This retrospective study aimed to analyze the frequency and extent of apical root resorptions (EARR) during orthodontic treatment in the upper and lower incisors, as well as lower molars, using orthopantomograms (OPG). Potential influencing factors such as age, gender, root shape, [...] Read more.
Background: This retrospective study aimed to analyze the frequency and extent of apical root resorptions (EARR) during orthodontic treatment in the upper and lower incisors, as well as lower molars, using orthopantomograms (OPG). Potential influencing factors such as age, gender, root shape, type of orthodontic appliance, and treatment duration were examined as well. Methods: A total of 57 patients who completed their treatment at the orthodontic department of the Goethe University of Frankfurt between 2011 and 2018 were included in the study. These patients had a combined total of 570 teeth, which were divided into two groups. Group 1 consisted of 20 patients (average age at T0: 10.1 ± 1.2 years old) received a one-phase fixed orthodontic treatment using passive self-ligating Damon bracket system (average duration of 2.1 years ± 6 months), while group 2 consisted of 37 patients (average age at T0: 12.4 ± 2.8 years old) underwent a two-phase therapy, which involved a phase-one functional therapy (average duration of 1.7 years ± 6 months) prior to the phase-two fixed orthodontic treatment with the Damon system (average duration of 1.5 ± 4 months) with a total treatment time of 3.2 years ± 7 months. To determine the extent of post-treatment root resorption of the upper and lower incisors, as well as the first lower molars, crown–root ratio was calculated for each tooth using the pre- and post-treatment OPGs. Additionally, each tooth was assigned a degree of resorption according to the Levander and Malmgren classification. The inter-group comparisons were conducted using the Wilcoxon Mann–Whitney U test. Spearman’s correlation analysis was used to assess the relationship between age, treatment duration, and EARR. The association between gender, root morphology, and EARR was evaluated using the Wilcoxon Mann–Whitney U test. For nominally scaled variables, the Chi-square test was used. The statistical significance was set at p < 0.05. Results: No statistically significant differences were seen between groups 1 and 2 regarding the degree of root resorption (p = 0.89). The study found that the average root resorption for all examined teeth was −5.14%, indicating a slight reduction in the length of the tooth roots after orthodontic treatment. However, no significant differences were observed concerning gender, age, type of orthodontic appliance or treatment duration. Comparisons between upper and lower jaws also did not yield statistically significant differences. The majority of teeth in the study exhibited a normal root shape. The short root length and a pipette formed roots were significantly associated with a higher risk of root resorption (p = 0.001). Conclusions: The study’s findings suggest that the two-phase orthodontic treatment does not increase the risk of EARR compared to one-phase therapy significantly. Some degree of root resorption occurred as a result of orthodontic treatment in both groups. Notably, abnormal root forms were identified as influential factors that could help predict the likelihood of root resorption following orthodontic treatment. Full article
(This article belongs to the Special Issue Dentistry in the 21st Century: Challenges and Opportunities)
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12 pages, 2834 KiB  
Case Report
A Case of Severe Early Childhood Caries Occurring in a Childhood Cancer Patient
by Tatsuya Akitomo, Noriko Niizato, Shunya Ikeda, Yuya Ito, Eimi Tabata, Chieko Mitsuhata and Ryota Nomura
Children 2025, 12(3), 261; https://doi.org/10.3390/children12030261 - 20 Feb 2025
Cited by 1 | Viewed by 1128
Abstract
Background/Objectives: Childhood cancer is the leading cause of death among children, although medical advances are improving the prognosis. During cancer treatment, nausea or vomiting may occur and eating habits may become irregular; therefore, it is important to prevent the development of oral diseases. [...] Read more.
Background/Objectives: Childhood cancer is the leading cause of death among children, although medical advances are improving the prognosis. During cancer treatment, nausea or vomiting may occur and eating habits may become irregular; therefore, it is important to prevent the development of oral diseases. We encountered a childhood cancer patient with rapidly progressive multiple dental caries, and this report describes the progress. Methods: A boy aged 2 years 9 months was referred for perioperative oral management. No caries were detected in the oral cavity at the initial visit. Results: As the patient had difficulty eating because of nausea and vomiting during cancer treatment, he began to consume probiotic drinks frequently. At 8-month follow-up, dental caries localized to the primary molars was detected. However, caries had occurred in all erupted teeth by 9 months later, confirming the diagnosis of severe early childhood caries. Dental treatment and long-term oral management contributed to good oral health except for dental abnormalities caused by chemotherapy. Conclusions: Childhood cancer patients, particularly at an early age, are at risk of rapid deterioration of oral disease even over a short time period. It is important to cooperate with medical or dental professionals from other hospitals to provide dietary and oral health instruction and continue long-term oral management to improve patients’ quality of life. Full article
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12 pages, 478 KiB  
Article
Innovative Approaches in Dental Care: Electrical Impedance Analysis (EIA) for Early Caries Detection
by Liliana Sachelarie, Ioana Romanul, Daniela Domocos, Mihaela Moisa, Emilia-Albinita Cuc, Raluca Iurcov, Carmen Stadoleanu and Loredana Liliana Hurjui
Bioengineering 2025, 12(3), 215; https://doi.org/10.3390/bioengineering12030215 - 20 Feb 2025
Viewed by 838
Abstract
(1) Background: Microcracks and structural fragility in teeth, often undetected by traditional methods until severe complications like fractures or pulp exposure occur, are evaluated in this study using electrical impedance analysis (EIA) as a non-invasive tool for early detection and assessment. (2) Methods: [...] Read more.
(1) Background: Microcracks and structural fragility in teeth, often undetected by traditional methods until severe complications like fractures or pulp exposure occur, are evaluated in this study using electrical impedance analysis (EIA) as a non-invasive tool for early detection and assessment. (2) Methods: A total of 57 patients were recruited, including individuals with bruxism (n = 20), dental restorations (n = 18), and no significant dental history (control group, n = 19). Electrical impedance measurements were performed on all teeth using a portable device, with data collected from occlusal and proximal surfaces. Patients with abnormal values underwent additional imaging (standard radiographs) to confirm the presence of microcracks. Statistical analyses included ANOVA to compare impedance values between groups and logistic regression to assess the predictors of structural fragility. (3) Results: Teeth with microcracks confirmed by standard radiographs exhibited significantly lower impedance values (mean 50 kΩ) compared to healthy teeth (mean 120 kΩ, p < 0.01). Patients with bruxism showed the highest proportion of teeth with abnormal impedance (45%). Logistic regression identified bruxism as a significant predictor of reduced impedance values (p < 0.05). (4) Conclusions: Electrical impedance analysis demonstrates promise as a non-invasive method for detecting microcracks and assessing structural fragility in teeth. Its application in routine dental check-ups could enable early interventions, particularly for high-risk patients with bruxism or restorations. Full article
(This article belongs to the Special Issue Biomaterials and Technology for Oral and Dental Health)
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15 pages, 801 KiB  
Review
Syndromic and Non-Syndromic Primary Failure of Tooth Eruption: A Genetic Overview
by Clarissa Modafferi, Elisabetta Tabolacci, Cristina Grippaudo and Pietro Chiurazzi
Genes 2025, 16(2), 147; https://doi.org/10.3390/genes16020147 - 24 Jan 2025
Cited by 1 | Viewed by 1843
Abstract
Primary failure of tooth eruption (PFE) is a rare genetic disorder characterized by the failure of teeth to erupt in the absence of obvious physical obstructions, often resulting in a progressive open bite that is resistant to orthodontic treatment. While PFE can be [...] Read more.
Primary failure of tooth eruption (PFE) is a rare genetic disorder characterized by the failure of teeth to erupt in the absence of obvious physical obstructions, often resulting in a progressive open bite that is resistant to orthodontic treatment. While PFE can be caused by genetic or systemic factors (such as cysts, tumors, and endocrine imbalances), the non-syndromic causes are primarily genetic, with an autosomal dominant inheritance pattern with variable expressivity. Several genes have been closely associated with the non-syndromic PFE form. The PTH1R (parathyroid hormone 1 receptor) is the most commonly PFE-associated gene. Additional genes associated with minor frequency are Transmembrane protein 119 (TMEM119), which reduces the glycolytic efficiency of bone cells, limiting their mineralization capacity and causing bone fragility; Periostin (POSTN), which regulates the extracellular matrix and the bone’s response to mechanical stress; and Lysine (K)-specific methyltransferase 2C (KMT2C), which establishes histone methylation near the Wnt Family Member 5A (WNT5A) gene involved in dental development (odontogenesis). Syndromic forms of PFE are typically associated with complex multisystem disorders, where dental eruption failure is one of the clinical features of the spectrum. These syndromes are often linked to genetic variants that affect ectodermal development, craniofacial patterning, and skeletal growth, leading to abnormal tooth development and eruption patterns. Notable syndromes include GAPO syndrome, ectodermal dysplasia, and cleidocranial dysplasia, each contributing to PFE through distinct molecular mechanisms, such as disruptions in dental structure development, cranial abnormalities, or systemic developmental delays. The main aim of this review is to provide a comprehensive overview of the genetic basis underlying both syndromic and non-syndromic forms of PFE to facilitate precision diagnosis, foster the development of personalized therapeutic strategies, and offer new insights into managing this complex dental anomaly. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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15 pages, 7942 KiB  
Case Report
Long-Term Oro-Dental Effects of Chemotherapy in a Pediatric Patient: A Case Study and a Proposed Oral Care Protocol
by Sasima Puwanun and Rungarun Kriangkrai
J. Clin. Med. 2025, 14(2), 603; https://doi.org/10.3390/jcm14020603 - 18 Jan 2025
Viewed by 1510
Abstract
Background: Chemotherapy (CMT) in children can disrupt dental development and calcification, causing long-term dental issues, but good dental care and habits can help improve quality of life. This case report examines permanent dental disturbances in a 7-year, 4-month-old girl undergoing CMT, explores [...] Read more.
Background: Chemotherapy (CMT) in children can disrupt dental development and calcification, causing long-term dental issues, but good dental care and habits can help improve quality of life. This case report examines permanent dental disturbances in a 7-year, 4-month-old girl undergoing CMT, explores the histology of microdontia, and outlines an oral treatment plan for CMT management. Methods: Clinical examination revealed microdontia and a groove crossing the cervical area (chronological hypoplasia), which were assessed using panoramic radiographs and histological analysis. The patient was monitored for five years, and microdontia was extracted for orthodontic reasons. A tailored treatment plan was implemented to maintain oral health during CMT. Results: Clinical and radiographic findings indicated tooth agenesis, rudimentary form, chronological hypoplasia, and microdontia. Histological analysis showed reduced odontoblast counts, abnormal dentinal tubules, thinner pre-dentin, and interglobular dentin (hypocalcification) surrounded by globular dentin (normal calcification). CMT-related microdontia caused inflammation with dilated blood vessels in the pulp. A high fever during CMT led to a groove in the enamel of all teeth, presenting as chronological hypoplasia. No new dental caries was observed over the follow-up. Conclusions: This report highlights long-term dental disturbances from CMT in permanent dentition and associated histopathological changes. It proposes an oral care protocol for managing these issues. Maintaining oral hygiene and preventing caries during the five-year follow-up reduced CMT side effects and improved the quality of the patient’s life. Full article
(This article belongs to the Special Issue Clinical Management of Oral Healthcare in Diverse Patient Populations)
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9 pages, 1991 KiB  
Case Report
Broadening the PHIP-Associated Neurodevelopmental Phenotype
by Giulia Pascolini, Giovanni Luca Scaglione, Balasubramanian Chandramouli, Daniele Castiglia, Giovanni Di Zenzo and Biagio Didona
Children 2024, 11(11), 1395; https://doi.org/10.3390/children11111395 - 17 Nov 2024
Cited by 1 | Viewed by 1482
Abstract
Background: Monoallelic damaging variants in PHIP (MIM*612870), encoding the Pleckstrin Homology Domain Interacting Protein, have been associated with a novel neurodevelopmental disorder, also termed Chung–Jansen syndrome (CHUJANS, MIM#617991). Most of the described individuals show developmental delay (DD)/intellectual disability (ID), obesity/overweight, and variable congenital [...] Read more.
Background: Monoallelic damaging variants in PHIP (MIM*612870), encoding the Pleckstrin Homology Domain Interacting Protein, have been associated with a novel neurodevelopmental disorder, also termed Chung–Jansen syndrome (CHUJANS, MIM#617991). Most of the described individuals show developmental delay (DD)/intellectual disability (ID), obesity/overweight, and variable congenital anomalies, so the condition can be considered as an ID–overweight syndrome. Case Description: We evaluated a child presenting with DD/ID and a craniofacial phenotype reminiscent of a Pitt–Hopkins syndrome (PTHS)-like condition. We performed a clinical exome analysis on his biological sample, as well as an in silico prediction of the obtained data. At the same time, we interrogated the DeepGestalt technology powered by Face2Gene (F2G), using a frontal image of the proband, and clinically reviewed the earlier CHUJANS patients. In this child, we found a novel PHIP pathogenetic variant, which we corroborated through a protein modeling approach. The F2G platform supported the initial clinical hypothesis of a PTHS-like condition, while the clinical review highlighted the lack of the main frequent CHUJANS clinical features in this child. Conclusions: The unusual clinical presentation of this novel patient resembles a PTHS-like condition. However, a novel variant in PHIP has been unexpectedly detected, expanding the phenotypic spectrum of CHUJANS. Notably, PTHS (MIM#610954), which is a different ID syndrome caused by heterozygous variants in TCF4 (MIM*610954), is not classically considered in the differential diagnosis of CHUJANS nor has been cited in the previous studies. This could support other complex diagnoses and invite further patients’ descriptions. Full article
(This article belongs to the Special Issue Neurodevelopmental Disorders in Pediatrics)
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13 pages, 2484 KiB  
Article
Fahr’s Syndrome with Pseudohypoparathyroidism: Oral Features and Genetic Insights
by Xiangpu Wang, Taoyun Xu, Yulong Zhu and Xiaohong Duan
Int. J. Mol. Sci. 2024, 25(21), 11611; https://doi.org/10.3390/ijms252111611 - 29 Oct 2024
Viewed by 1564
Abstract
Fahr’s syndrome is a rare neurodegenerative disorder with limited research on its oral manifestations. This study investigates the dental features and genetic background of Fahr’s syndrome through a pedigree analysis and a retrospective literature study. A clinical examination and whole-exome sequencing (WES) were [...] Read more.
Fahr’s syndrome is a rare neurodegenerative disorder with limited research on its oral manifestations. This study investigates the dental features and genetic background of Fahr’s syndrome through a pedigree analysis and a retrospective literature study. A clinical examination and whole-exome sequencing (WES) were conducted on a female patient with Fahr’s syndrome and pseudohypoparathyroidism, along with her family members. The patient presented with super-numerary teeth, tooth agenesis, enamel hypoplasia, and abnormal tooth eruption. The WES did not reveal any known pathogenic mutations related to pseudohypoparathyroidism or Fahr’s disease. However, genetic variations in KIF1A, FZD8, and PDGFA may underlie these dental abnormalities. Additionally, a retrospective analysis of 22 reported cases from PubMed and the Human Gene Mutation Database (1 January 1965–30 June 2024) was conducted with keywords such as “Fahr’s disease”, “Fahr’s syndrome”, “dental”, and “hypoparathyroidism”. The analysis showed that patients with Fahr’s syndrome, pseudohypoparathyroidism, and idiopathic hypoparathyroidism exhibited similar oral abnormalities, including tooth agenesis, root dysplasia, dental malformations, and abnormal tooth eruption. Variations in the incidence of tooth agenesis and dental malformation among these groups may be linked to differences in parathyroid hormone metabolism. These findings suggest oral abnormalities are the key local features of Fahr’s syndrome and related parathyroid disorders. Full article
(This article belongs to the Special Issue Genes and Human Diseases 2.0)
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14 pages, 1356 KiB  
Article
Dentition Anomalies and Cranial Abnormalities in Invasive Beavers (Castor canadensis) in Tierra Del Fuego, Argentina
by Alvaro González-Calderón
Animals 2024, 14(16), 2285; https://doi.org/10.3390/ani14162285 - 6 Aug 2024
Viewed by 1581
Abstract
The study of dentition anomalies and pathologies in wildlife contributes, together with other indicators, to understanding the relevance of some factors on the health status of populations. This has not been properly evaluated in invasive mammals. To test the feasibility of eradication, the [...] Read more.
The study of dentition anomalies and pathologies in wildlife contributes, together with other indicators, to understanding the relevance of some factors on the health status of populations. This has not been properly evaluated in invasive mammals. To test the feasibility of eradication, the government of Tierra del Fuego performed the eradication of beavers (Castor canadensis) from 2016 to 2018: 1121 animals were removed and 970 examined. These beavers were examined to analyze the incidence of dentition anomalies and other dentition and cranial conditions. The beavers presented two dentition anomalies: hypodontia and hyperdontia (0.41% in both cases), and for the first time, a dentition anomaly in the upper quadrants was reported. Beavers also presented artifactual tooth loss (0.30%) and acquired tooth loss (0.61%) but with low incidence. The presence of fractured teeth (0.41%) and caries (0.31%) occurred in all age classes, also with low incidence. The third molar tooth was the most affected, showing a female bias. The 0.93% of skulls had a cranial abnormality represented as a buccal curvature. Malocclusion cases also were recorded (0.51%). The low prevalence of dentition anomalies, fractured teeth, caries, and cranial abnormalities would not compromise the lifespan of beavers. These results leave a precedent of dentition anomalies and dentition and cranial conditions in an invasive mammal. Full article
(This article belongs to the Section Wildlife)
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