The genetic determinants of oral diseases in Africa: The gaps should be filled.

Oral diseases are a major health concern and are among the most prevalent diseases globally. This problem is becoming more prominent in the rapidly growing populations of Africa. It is well documented that Africa exhibits the most diverse genetic make-up in the world. However, little work has been conducted to understand the genetic basis of oral diseases in Africans. Oral health is often neglected and receives low prioritisation from funders and governments. The genetic determinants of highly prevalent oral diseases such as dental caries and periodontal disease, and regionally prevalent conditions such as oral cancer and NOMA, are largely under-researched areas despite numerous articles alluding to a high burden of these diseases in African populations. Therefore, this review aims to shed light on the significant gaps in research on the genetic and genomic aspects of oral diseases in African populations and highlights the urgent need for evidence-based dentistry, in tandem with the development of the dentist/scientist workforce.

Craniofacial, dental, and molecular features of Pyle disease in a South African child.

INTRODUCTION: Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autosomal recessive condition leading to widened metaphyses of long bones and cortical bone thinning and genu valgum. We detail the oro-dental and molecular findings in a South African patient with PD. METHODS: The patient underwent clinical, radiographic and molecular examinations. An exfoliated tooth was analysed using scanning electron microscopy and was compared to a control tooth. RESULTS: The patient presented with marked Erlenmeyer-flask deformity (EFD) of the long bones and several Wormian bones. His dental development was delayed by approximately three years. The permanent molars were mesotaurodontic. The bones, including the jaws and cervical vertebrae, showed osteoporotic changes. The lamina dura was absent, and the neck of the condyle lacked normal constrictions. Ionic component analysis of the primary incisors found an absence of magnesium. Sanger sequencing revealed a novel putative pathogenic variant in intron 5 of SFRP4 (c.855+4delAGTA) in a homozygous state. CONCLUSION: This study has reported for the first time the implication of a mutation in the SFRP4 gene in an African patient presenting with PD and highlights the need for dental practitioners to be made aware of the features and management implications of PD.

Managing vertical dimensions in patients with Amelogenesis Imperfecta: A case report.

Amelogenesis imperfecta (AI) is a heterogeneous group of conditions characterized by inherited developmental defects of enamel. Patients with AI often have progressive and severe loss of occlusal vertical dimensions (OVD), resulting in challenging dental rehabilitation. In this case report, we present the management of a 24-year-old male patient who previously underwent orthodontics, direct and indirect restorations, and continued to have progressive tooth wear. His vertical dimensions were restored in two phases, firstly with provisional restorations at the improved OVD, followed by a combination of monolithic zirconia and lithium disilicate full-coverage crowns. A removable acrylic appliance was then constructed to protect his teeth. This report emphasizes the importance of preserving and protecting the OVD from an early age to prevent more costly and complicated management in future.

Facial imaging to screen for fetal alcohol spectrum disorder: A scoping review.

Facial imaging tools have rapidly advanced in recent years and show potential for use in fetal alcohol spectrum disorder (FASD) screening and diagnosis. This scoping review describes the current state of evidence regarding the use of facial imaging being as a screening tool for FASD at a community level. This review follows the guidelines for the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) extension for scoping reviews and is registered with the Open Science Framework (osf.io/e4xw6). An electronic search of five databases was conducted. The time frame was limited to the period 2006 to 2022. The search included any form of imaging of the head, neck, oral cavity, and dentition. Animal and antenatal studies were excluded, as were those using only brain imaging. The search retrieved 730 unique titles. After title, abstract, and full-text screening, 28 primary studies were included in this review. Most studies were conducted with South African participants. Imaging included 2D photographs, 3D stereophotogrammetry, 3D laser scanning, and radiographs. Various measurements and landmarks were used to discriminate FASD from non-FASD participants, which included anthropometry, face shape analysis, and facial curvatures. Methods of data processing, analysis, and modeling ranged from manual methods to fully automated systems utilizing artificial intelligence. The use of facial imaging to screen for and diagnose patients with FASD is a rapidly advancing field. Most studies in the field remain exploratory, attempting to find accurate, reliable, and consistent landmarks and measures across different populations. For community screening, none of the tools in this review in their current form completely fulfill all the identified properties of an ideal screening tool. More research and development are needed prior to advocating for the use of any tool listed and the ethical implications are yet to be fully explored.

Enamel Renal Syndrome: Protocol for a Scoping Review.

BACKGROUND: Enamel renal syndrome (ERS) (OMIM 204690) is a rare autosomal recessive disorder characterized by hypoplastic amelogenesis imperfecta, failed tooth eruption, intrapulpal calcifications, gingival enlargement, and nephrocalcinosis. The rarity of the condition and the variability of the phenotype has led to ERS not being fully characterized. OBJECTIVE: This scoping review aims to account for the range and current state of knowledge on ERS and synthesize these findings into a comprehensive summary, focusing on the pathophysiology, genotype-phenotype correlations, and patient management from a dental perspective. METHODS: The authors will conduct a systematic search of PubMed (MEDLINE), BioMed Central, EbscoHost Web, Web of Science, and WorldCat. We will include all studies with human participants with a confirmed diagnosis of ERS. Articles will be screened in two stages (ie, initially by title and abstract screening and then full-text screening by two independent reviewers). Data extraction will be conducted using a customized electronic data extraction form. We will provide a narrative synthesis of the findings from the included studies. We will structure the results according to themes. RESULTS: This protocol is registered with the Open Science Framework. The electronic search was conducted in July 2020 and updated in April 2021. The research findings will be published in an open access journal. CONCLUSIONS: Dentists should be able to identify patients with clinical features of ERS so that they receive appropriate referrals for renal evaluation, genetic counseling, and oral rehabilitation to increase the patient's quality of life. A scoping review is the most appropriate method to conduct this comprehensive exploration of the current evidence, which may be sparse due to the rarity of the condition. It will also enable us to identify gaps in the research. TRIAL REGISTRATION: Open Science Framework; https://osf.io/cghsa. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/29702.

Taurodontism in dental genetics.

Taurodontism is a dental anomaly defined by enlargement of the pulp chamber of multirooted teeth with apical displacement of the pulp floor and bifurcation of the roots. Taurodontism can be an isolated trait or part of a syndrome. A study was conducted to document the dental and craniofacial aspects of genetic thin bone disorders in South Africa. Sixty-four individuals with Osteogenesis imperfecta (OI), one individual with Pyle disease and one with Torg-Winchester syndrome respectively, were assessed clinically, radiographically and at a molecular level. Ten patients with OI XI and those with Pyle disease and Torg-Winchester syndrome had taurodontism. Taurodontism has been identified in several genetic disorders necessitating cognizance of the possible existence and implications of this characteristic when managing patients in the dental environment. Further studies should be directed toward identifying the incidence, etiology, and molecular pathways leading to taurodontism and its relationship to genetic syndromes.

Gordon syndrome: Dental implications and a case report.

AIM: This article describes the craniofacial and dental features of an individual with Gordon syndrome. The dental management implications and considerations of treating patients with Gordon Syndrome and similar conditions resulting in limited mouth opening are discussed. METHODS: A 14-year-old South African male was referred to the Dental Genetics Clinic with the main complaint of carious teeth. His craniofacial characteristics included low set and posteriorly rotated ears, down-slanted palpebral fissures, sloping shoulders, and a broad neck. A prognathic mandible and mild facial asymmetry were noted. He had a significant limitation of mouth opening (2 cm at incisors). Radiographic examination revealed multiple carious teeth, missing mandibular premolars, impacted maxillary premolars, taurodontism of the 44 and 34, and enlarged coronoid processes of the mandible. Dental extractions and restorations have been performed under local anaesthesia. CONCLUSION: Gordon syndrome and similar conditions, may result in limited oral opening and impaired manual dexterity. The severity of limitation of mouth opening determines management. Dental management should focus on ensuring that the patient is able to maintain good oral hygiene by customising homecare for the individual and regular dental visits.

MACRODONTIA: A brief overview and a case report of KBG syndrome.

Macrodontia is a dental condition where a tooth or group of teeth are abnormally larger than average. Functional and aesthetic discrepancies may arise in affected individuals resulting in lowering the quality of life. It has been noted that macrodontia is associated with several genetic and endocrine abnormalities. Among which, KBG syndrome is a rare genetic disorder characterized by developmental and dental abnormalities. This case report provides a brief overview of the significance of macrodontia, along with presenting a case of KBG syndrome with atypical features in a South African, 16-year-old female. The dental manifestations are often overshadowed by other more conspicuous and complex syndromic features. Recognition of both the clinical and oral changes that occur in KBG syndrome facilitates accurate diagnosis and appropriate management of this condition. The authors highlight the importance for clinicians to be cognizant of the clinical implications of macrodontia.

Treatment of oral fungal infections using photodynamic therapy: Systematic review and meta-analysis.

OBJECTIVES: This systematic review evaluated the evidence for the effectiveness of Photodynamic therapy (PDT) in treating oral fungal infections, as an alternative to conventional antifungal medications. METHODS: Five randomized control trials (168 participants) comparing the treatment of oral fungal infections using met with our inclusion criteria. Clinical and microbiological improvement was assessed by random-effects meta-analysis. Methodological quality assessment and heterogeneity were performed using peer-reviewed criteria. PROSPERO registration: CRD42017076. RESULTS: PDT showed statistically non-significant increased clinical efficacy (risk ratio (RR) = 1.47 [95% confidence interval (CI), 0.68; 3.17]; three studies, n = 108 participants, I2 = 50%) and mycological efficacy (mean difference (MD) = 0.54 [95%CI, -0.71; 1.79]; three studies, n = 100; I2 = 39%) at 30 days, as compared with conventional antifungal therapy. Lack of standardization of treatment parameters and variability in the assessment of outcomes was observed across the studies. All included studies had a moderate to low risk of bias. CONCLUSIONS: PDT showed comparable effectiveness at treating oral fungal infections, particularly denture stomatitis. The small number of studies in this review, small sample size and variability of methods and outcome measures across studies, highlight the need for more standardized studies with longer follow-up periods to enable recommendation of PDT as an alternative to conventional antifungal therapy.

The evolution of the nosology of osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a relatively common genetic skeletal disorder with an estimated frequency of 1 in 20 000 worldwide. The manifestations are diverse and although individually rare, the several different forms contribute to the production of a significant number of affected individuals with considerable morbidity and mortality. During the last decade, there have been extensive molecular investigations into the etiology of OI and these advances have direct relevance to the medical management of the disorder, and the purpose of this review is to document the history and evolution of the nosology of OI. The current nosology, based on molecular concepts, which are crucial in the identification of genotype-phenotype correlations in persons with OI, is also outlined. The successive revisions of the nosology and classification of OI have highlighted the importance of the nomenclature of the condition in order for it to be recognized by clinicians, scientists and patient advocacy groups. In this way, improved counseling of patients and individualized, tailored therapeutic approaches based on the underlying pathophysiology of the individual's type of OI have been facilitated.

Sella turcica morphology in patients with genetic syndromes: A systematic review.

The sella turcica is an important anatomical reference used in orthodontics for the evaluation of craniofacial growth. Studies have found variations in the sella turcica morphology in patients with syndromes affecting the craniofacial complex. This review aims to determine whether genetic syndromes involving the craniofacial complex are associated with abnormal radiographic sella turcica morphology and whether there is a pattern of malformation which is consistent within each syndrome. An electronic database search was conducted to identify relevant studies. We included primary studies describing the morphology of the sella turcica on lateral radiographs in human subjects with genetic syndromes involving the craniofacial complex. No restrictions were placed on language or timeframe. PROSPERO registration CRD42019148060. Thirty-eight studies were included in this review. A 'J'-shaped sella was found in patients with Hutchinson-Gilford-Progeria syndrome and other syndromes. A bulbous dorsum sellae was highly prevalent Cleidocranial dysplasia, and a bulbous dorsum sellae and uneven contours of the clivus was found in Cri du chat syndrome. A steep clivus was described in patients with Axenfeld-Rieger syndrome. An oblique anterior wall was the most frequent malformation found in Down's syndrome. Genetic syndromes affecting the craniofacial complex are associated with abnormal morphology of the radiographic sella turcica. Clinicians should be observant of abnormal sella turcica morphology which can be a sign of undiagnosed or subclinical syndromes. More high-quality studies are needed which use standardized and objective methods of determining the morphology of the sella turcica.

Sella Turcica Morphology in Patients With Genetic Syndromes: Protocol for a Systematic Review.

BACKGROUND: The sella turcica is an important anatomical reference used in orthodontics and the evaluation of craniofacial growth. Studies have found an association between variations in sella turcica morphology in patients with certain syndromes affecting the craniofacial complex. It is hypothesized that each related syndrome or pathological condition is associated with a specific pattern of malformation of the sella turcica. OBJECTIVE: This study outlines the protocol for a systematic review that aims to determine if genetic syndromes involving the craniofacial complex are associated with abnormal radiographic sella turcica morphology and if there is a pattern of malformation that is consistent with each syndrome. METHODS: An electronic database search was conducted using a planned search strategy to identify relevant studies. We included primary studies evaluating the morphology of the sella turcica based on imaging from a lateral view. Specifically, only studies with postnatal human participants with genetic syndromes involving the craniofacial complex were included in this review. We placed no restrictions on the language or time frame of these studies. Based on the search findings, studies were further screened for relevance and eligibility by two independent reviewers. Data were extracted from the selected studies. We assessed the selected studies for risk of bias and quality by using risk of bias tools from the Joanna Briggs Institute. We will provide a narrative synthesis of our findings and a structured summary based on prespecified themes. RESULTS: The protocol is registered with PROSPERO (#CRD42019148060) and approved by the University of Western Cape Biomedical Science Research Ethics Committee (BM205/3). The literature search was conducted in September 2019 and updated in July 2020. The study was completed in August 2020, and the findings will be published in an open-access journal. CONCLUSIONS: The results of this systematic review are expected to provide a comprehensive list of morphological variations of the sella turcica, which will aid in the identification of syndromes associated with the craniofacial complex. We also expect to identify patterns of sella turcica morphology that highlight genotype-phenotype correlations, thus adding to the body of evidence relating to genetics and craniofacial malformations. TRIAL REGISTRATION: PROSPERO International Prospective Register of Systematic Reviews CRD42019148060; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=148060. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR1-10.2196/16633.