Non-syndromic orofacial clefts (NSOCs) are the most common craniofacial malformation. In the complex aetiology and pathogenesis of NSOCs, genetic factors play a crucial role and IRF6, located at chromosome 1q32.2, is the best documented NSOC susceptibility gene. IRF6 is a key factor in oral maxillofacial development and known to contribute the most in NSOCs. It is essential to conduct a complete review of the existing results on IRF6 to further understand its role in the pathogenesis of NSOCs. Thus, the present authors summarised the research progress on the mechanism of IRF6 in NSOCs from both genetic and functional perspectives in this review.

According to modern epidemiological surveys, the prevalence of adenoid hypertrophy in children and adolescents ranges from 42% to 70%. Adenoid hypertrophy can lead to airway obstruction; thus forces a child to breathe through their mouth, thus affecting the normal development of the dental and maxillofacial area, and can lead to malocclusion. Long-term mouth breathing can cause sagittal, vertical and lateral changes in the maxillofacial area. In this article, we review the current research status relating to the association between adenoid hypertrophy, oral breathing and maxillofacial growth and development in children and adolescents. We also discuss the personalized formulation of treatment plans.

Mouth breathing is one of the most common deleterious oral habits in children. It often results from upper airway obstruction, making the air enter completely or partially through oral cavity. In addition to nasal obstruction caused by various kinds of nasal diseases, the pathological hypertrophy of adenoids and/or tonsils is often the main etiologic factor of mouth breathing in children. Uncorrected mouth breathing can result in abnormal dental and maxillofacial development and affect the health of dentofacial system. Mouth breathers may present various types of growth patterns and malocclusion, depending on the exact etiology of mouth breathing. Furthermore, breathing through the oral cavity can negatively affect oral health, increasing the risk of caries and periodontal diseases. This review aims to provide a summary of recent publications with regard to the impact of mouth breathing on dentofacial development, describe their consistencies and differences, and briefly discuss potential reasons behind inconsistent findings.

BACKGROUND: Many genetic diseases are known to have distinctive facial phenotypes, which are highly informative to provide an opportunity for automated detection. However, the diagnostic performance of artificial intelligence to identify genetic diseases with facial phenotypes requires further investigation. The objectives of this systematic review and meta-analysis are to evaluate the diagnostic accuracy of artificial intelligence to identify the genetic diseases with face phenotypes and then find the best algorithm.
METHODS: The systematic review will be conducted in accordance with the \"Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocols\" guidelines. The following electronic databases will be searched: PubMed, Web of Science, IEEE, Ovid, Cochrane Library, EMBASE and China National Knowledge Infrastructure. Two reviewers will screen and select the titles and abstracts of the studies retrieved independently during the database searches and perform full-text reviews and extract available data. The main outcome measures include diagnostic accuracy, as defined by accuracy, recall, specificity, and precision. The descriptive forest plot and summary receiver operating characteristic curves will be used to represent the performance of diagnostic tests. Subgroup analysis will be performed for different algorithms aided diagnosis tests. The quality of study characteristics and methodology will be assessed using the Quality Assessment of Diagnostic Accuracy Studies 2 tool. Data will be synthesized by RevMan 5.3 and Meta-disc 1.4 software.
RESULTS: The findings of this systematic review and meta-analysis will be disseminated in a relevant peer-reviewed journal and academic presentations.
CONCLUSIONS: To our knowledge, there have not been any systematic review or meta-analysis relating to diagnosis performance of artificial intelligence in identifying the genetic diseases with face phenotypes. The findings would provide evidence to formulate a comprehensive understanding of applications using artificial intelligence in identifying the genetic diseases with face phenotypes and add considerable value in the future of precision medicine.
UNASSIGNED: DOI 10.17605/OSF.IO/P9KUH.

OBJECTIVE: Tonsil surgeries are common operations in the field of paediatric otorhinolaryngology. Often, the indication for these operations is hypertrophied tonsils. Paediatric sleep-disordered breathing and mouth-breathing are conventional situations caused by the hypertrophied tonsils. Both of these are further associated with dentofacial development alterations. Securing normal dentofacial development, or restoring it, is often used as an indication for tonsil surgery. In this review and meta-analysis, we assessed the contemporary literature to clarify whether tonsil surgery has an effect on dentofacial development in children.
METHODS: Studies with children aged 3-10 years who underwent tonsil surgery and were compared to non-operated controls using dentofacial parameters were included to the review. Search strategies were planned for specific databases. The Newcastle-Ottawa scale was used to assess the risk of bias. A meta-analysis was performed when the data was methodologically homogenous enough to be pooled.
RESULTS: The inclusion criteria for the review were fulfilled in 8 studies. The overall quality of the individual studies was judged to be moderate at best. The data were methodologically homogenous enough to be pooled for the meta-analysis in only 2 studies. The results of the meta-analysis revealed that tonsil surgery has a positive effect on the growth direction of the mandible (p < 0.001).
CONCLUSIONS: There is modest evidence that suggests that tonsil surgery has a positive effect on the dentofacial development in children with hypertrophied tonsils. Securing normal dentofacial development should be one component, but not the only one, when the indications for tonsil surgery in children are considered.

The aim of this systematic review (for which we followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines) was to provide an overview of the protocols and clinical outcomes of dental implants placed in growing jaws. We searched the MEDLINE/PubMed, Embase, Scopus, and Science Direct databases in October and November, 2017. A total of 3492 studies were identified, and all the studies reporting the outcomes of dental implants placed during the growth phase were included in the study. After duplicates had been removed, 2133 studies were screened based on their titles and abstracts, and 162 were selected for reading. Finally, 28 studies were included in the review. Overall, 493 dental implants were placed in 147 patients aged from 3-18 years old with follow-up being from 1-20 years. The most common disorders seen that were associated with missing teeth were ectodermal dysplasia and dental trauma. The main complications reported were the infraocclusion positioning of dental implants in the maxillary arch and the rotation of dental implants in the mandibular arch. Dental implants were indicated for the anterior regions of the maxilla and mandible in patients over 10 years old, and placement of maxillary implants in a more coronal position was recommended. Consultations and adjustments to prostheses were required until growth had ceased. In growing jaws, dental implants require positional modifications, and they should be considered only under special circumstances.

Fibroblast growth factors (FGFs) are diffusible polypeptides released by a variety of cell types. FGF8 subfamily members regulate embryonic development processes through controlling progenitor cell growth and differentiation, and are also functional in adults in tissue repair to maintain tissue homeostasis. FGF8 family members exhibit unique binding affinities with FGF receptors and tissue distribution patterns. Increasing evidence suggests that, by regulating multiple cellular signaling pathways, alterations in the FGF8 subfamily are involved in craniofacial development, odontogenesis, tongue development and salivary gland branching morphogenesis. Aberrant FGF signaling transduction, caused by mutations as well as abnormal expression or isoform splicing, plays an important role in the development of oral diseases. Targeting FGF8 subfamily members provides a new promising strategy for the treatment of oral diseases. The aim of this review was to summarize the aberrant regulations of FGF8 subfamily members and their potential implications in oral‑maxillofacial diseases.

OBJECTIVE: A systematic review was performed to assess the prognosis for facial growth direction documented by mandibular plane inclination and anterior face height in growing subjects who had undergone surgical intervention to relieve mouth breathing (PROSPERO database, registration no. CRD 42013005707).
METHODS: PubMed, Scopus, Web of Science, the Cochrane Library and LILACS were searched based on the guidelines of the PRISMA statement. Included were longitudinal studies with mouth-breathing patients who had undergone surgical interventions to relieve their respiratory pattern, with a minimum follow-up of one year.
RESULTS: A total of 1555 studies were identified, whereby only three nonrandomized clinical trials comprising 155 participants met the inclusion criteria. Primary outcome was change between the initial and final measurements of the mandibular plane-SN angle (95% confidence interval [CI] -2.13° [-3.08, -1.18]). Secondary outcomes included changes in total anterior face height (AFH; 95% CI -0.76 mm [-1.91, 0.38]), upper AFH (95% CI 0.09 mm [-0.57, 0.74]), and lower AFH (95% CI 0.06 mm [-0.87, 0.99]). Risk of bias was low for most of bias domains and the quality of evidence across the studies was considered to be very low. The design, the small number of participants, and the absence of blinding generated imprecision.
CONCLUSIONS: There is very low evidence that the mandibular growth direction became more horizontal during the first year after surgery to treat mouth breathing. The total anterior facial height decreased, although not always significantly.

Mastication is a complex sensorimotor interaction between the central nervous system and the peripheral masticatory apparatus. To understand the effect of oro-facial abnormalities on mastication, it is important to first understand the normal development of jaw sensorimotor control and chewing in healthy children. Original studies which investigated four main objective parameters of chewing, i.e. maximum occlusal bite force, electromyography (EMG), jaw kinematics and chewing efficiency in children were systematically searched using three established databases. The targeted sample was healthy children below the age of 18-years. All studies that subjectively assessed mastication, studies of children with abnormalities, or non-English studies were excluded. A total of 6193 papers were identified, 53 met the final inclusion criteria. Results are presented according to the dentition stage. Children below 6-years (primary dentition) had lower biting forces and EMG activity, and the frontal jaw movement pattern was more laterally displaced and less stable than children older than 6-years. EMG activities and bite forces increased in children 6- to 10-year-old (early mixed dentition) with a reduction in lateral jaw displacement and an increase in vertical jaw displacement. Twelve-year-old children were able to chew food into smaller particles compared to 6-year-olds. Gender differences were visible in all parameters except EMG activity in late mixed dentition (10- to 12-years). After 12-years, there was a significant increase in bite forces and EMG activities, and the frontal jaw pattern became similar to adults. Studied chewing parameters gradually improve with the development of the oro-facial structures and were mainly influenced by dental eruption. A significant development of chewing parameters occurs after 12 years of age. A transition to the adult-type of masticatory behavior occurs between 10- to 14-years of age.

BACKGROUND: Mandibular reconstruction in craniofacial microsomia (CFM) has been described and reviewed at length although final results are not always (aesthetically) satisfactory due to maxillo-mandibular asymmetry, for which optimal correction techniques remain unclear. The aim of this systematic review is to provide an overview of the surgical options for maxillary correction in patients with unilateral CFM.
METHODS: MEDLINE/Pubmed, Embase, Cochrane and Web of Science databases were searched up to April 15, 2017. Inclusion criteria were: studies reporting patients with unilateral CFM (n > 4) who had maxillary correction (with/without simultaneous mandibular correction) with a minimal follow-up of 6 months. The outcome measures included type of treatment (including preceding facial procedures), type and severity of mandibular deformity (by Pruzansky-Kaban system: Types I/IIa/IIb/III), asymmetry analysis method, outcome (i.e. occlusion, canting, stability, esthetic result, facial symmetry), complications and additional treatment needed.
RESULTS: Nine studies met the inclusion criteria. Analysis showed that Le Fort I + mandibular distraction osteogenesis (LeFort + MDO) and BiMaxillary osteotomy (BiMax) were used for treatment, as single or multiple-stage procedures. All studies reported aesthetic and functional improvement.
CONCLUSIONS: Types I/IIa benefited from LeFort + MDO; Type IIb from LeFort + MDO or BiMax; and Type III from BiMax (with 50% of cases having preceding mandibular procedures, including patient-fitted prosthesis) at a mean age of 20.2 years. Four studies recommended additional (esthetic) procedures.