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

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.

Rehabilitation with implant-supported overdentures in preteens patients with ectodermal dysplasia: A cohort study.

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.

Non-syndromic hypodontia of maxillary lateral incisors and its association with other dental anomalies.

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.

Síndrome del incisivo central maxilar medio único en neonato / Solitary median maxillary central incisor syndrome in neonates / Síndrome do incisivo central maxilar médio solitário em neonatos

Introducción: el síndrome del incisivo central maxilar medio único (SMMCI) es un trastorno de etiología desconocida, con base genética heterogénea, que se caracteriza por la erupción de un único incisivo central en el maxilar y que se puede relacionar con multitud de patologías y síndromes, entre los que destacan las alteraciones de la línea media, obstrucción nasal congénita, disfunción hipofisaria, talla baja y holoprosencefalia. Caso clínico: neonato mujer con síndrome dismórfico no filiado y obstrucción nasal congénita, que es diagnosticada de SMMCI tras consultar en repetidas ocasiones por cuadros de dificultad respiratoria y problemas para alimentarse. Conclusiones: el conocimiento de este raro síndrome es fundamental para la realización de un diagnóstico precoz por parte del equipo pediátrico y obstétrico, ya que un diagnóstico temprano es posible, mejorando la evaluación prenatal ecográfica, así como el adecuado manejo posnatal multidisciplinar posterior de nuestros pacientes.

Introduction: the Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a disorder of unknown etiology, with a heterogeneous genetic basis, characterized by the eruption of a single central incisor in the maxilla and that can be linked to various pathologies and syndromes, among which the alterations of the midline, congenital nasal obstruction, pituitary dysfunction, short stature and holoprosencephaly stand out. Clinical case: female newborns with unknown dysmorphic syndrome and congenital nasal obstruction, diagnosed with SMMCI after repeated consultations due to respiratory distress and feeding problems. Conclusions: understanding this rare syndrome is essential for an early diagnosis to be carried out by the pediatric and obstetric team, since it will improve the ultrasound prenatal assessment, as well as the adequate subsequent multidisciplinary postnatal patient management procedures.

Introdução: a síndrome do incisivo central maxilar médio solitário (SICMMS) é uma desordem de etiologia desconhecida, com base genética heterogênea, caracterizada pela erupção de um único incisivo central na maxila e que pode estar relacionada a uma infinidade de patologias e síndromes. onde se destacam alterações da linha média, obstrução nasal congênita, disfunção hipofisária, baixa estatura e holoprosencefalia. Caso clínico: recém-nascida com síndrome dismórfica de origem desconhecida e obstrução nasal congênita, diagnosticada com SICMSS após várias consultas por desconforto respiratório e problemas de alimentação. Conclusões: o conhecimento desta rara síndrome é essencial para que a equipe pediátrica e obstétrica possa fazer um diagnóstico precoce, pois ele pode melhorar a avaliação ultrassonográfica pré-natal, bem como o adequado manejo pós-natal multidisciplinar pós-natal dos pacientes.

Osteogenic distraction to treat solitary median maxillary central incisor (SMMCI) syndrome: a case report.

Solitary median maxillary central incisor (SMMCI) syndrome is a rare developmental disorder characterized by a single symmetrical maxillary central incisor. Only a small number of cases with comprehensive dental treatment have been reported in the literature. No surgical treatment has been proposed before. We report the case of an 8-year-old girl who presented SMMCI syndrome associated with an Angle class II occlusion and a maxillary transverse deficiency. After the failure of two rapid maxillary expansions, a surgical option was proposed: osteogenic maxillary distraction. The distraction, associated with multi-bracketed fixed orthodontic treatment, created enough space to place a prosthetic central incisor without dental extractions. Osteogenic distraction is an interesting option to treat patients with SMMCI.

Tooth Germ Development After Autotransplantation of an Immature Permanent Tooth.

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.

Dental manifestations of a paediatric patient with Goldenhar syndrome.

Goldenhar syndrome (GS) is a rare congenital disorder. It arises from the first pharyngeal pouch, first branchial cleft, first and second branchial arches, and primordia of the temporal bone. It mainly involves abnormalities in the ear, mandibular, and maxillary arches, and is associated with variable clinical features such as skeletal, cardiac, and renal systems. The presence of extra teeth in the dental arch is called supernumerary teeth, and hypodontia refers to congenitally missing teeth. The occurrence of both these anomalies in the same patient is called concomitant hypohyperdontia. However, the GS itself is not very rare, though the presence of concomitant hypohyperdontia has not been reported. The purpose of the present case report is to describe the first case from Saudi Arabia with a characteristic combination of rare findings in a seven-year-old child with comprehensive oral rehabilitation.

Association between hypodontia of permanent maxillary lateral incisors and other dental anomalies

ABSTRACT 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.

RESUMO Introdução: As agenesias dentárias são frequentemente associadas a outras anomalias dentárias, tais como microdontia, atraso na erupção e ectopismo. Além disso, podem vir todas juntas em um mesmo indivíduo, pois certas mutações genéticas podem se expressar fenotipicamente de diferentes formas. A abordagem terapêutica nos casos de hipodontia de dentes anteriores não deve se pautar somente entre fechar ou abrir espaço para substituição protética. Portadores de hipodontia de incisivos laterais superiores permanentes podem apresentar os outros dentes com largura mesiodistal menor que os de pacientes com dentição normal, e podem necessitar de reanatomizações para que se obtenha uma oclusão dentária estética e funcional. Objetivo: Dessa forma, o objetivo do presente artigo é relatar um caso clínico e discutir a associação da hipodontia de incisivos laterais superiores permanentes com outras anomalias dentárias, e suas alternativas de tratamento.

Associations between childhood cancer treatment and tooth agenesis.

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.

A clinical and multi­omics study of Van der Woude syndrome in three generations of a Chinese family.

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 4­month­old 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 three­generation family were subsequently collected, and whole­exome 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. Whole­transcriptome 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.

Association between hypodontia of permanent maxillary lateral incisors and other dental anomalies.

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.

Multidisciplinary treatment with a customized lingual appliance for an adult patient with severe Class III malocclusion and multiple missing teeth.

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.

GAPO syndrome with craniosynostosis and intracranial hypertension.

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.

Radiological imaging and orthodontic treatment in the case of growing patients after oncological treatment: Case reports.

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.

Orodental Findings in Patients with Lacrimo-Auriculo-Dento-Digital Syndrome.

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.

Hypohydrotic Ectodermal Dysplasia in an Indian Family.

Hereditary ectodermal dysplasia (HED) is a rare genetic disorder chiefly affecting ectodermally derived structures including hair, nails, sweat glands etc. with pathognomic manifestations such as hypotrichosis, hypohidrosis, and hypodontia. Hypohidrotic ectodermal dysplaisa, being the most frequently encountered subtype and HED, being the rare subtype. HED is primarily transmitted through X-linked recessive trait in which the gene is carried by the female and manifested in male. Although rare, this disorder may be seen affecting lot of members of the same family. We hereby report a series of four cases with common classical manifestations accompanied with spoon shaped nails, hyperpigmentation, oligodontia and hypotrichosis. The patients were treated for prosthetic rehabilitation and were asked to wear cool clothing.

Syndromes associated with dental agenesis.

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.

GAPO Syndrome-A Rare Cause of Osteomyelitis of Jaws; Report of 4 Cases With a Brief Review of the Literature.

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.

Nonsyndromic cleft lip and palate, gastric cancer and tooth agenesis.

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.