Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of RBM42 with hnRNP K, which is the causative gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient. The human R102* or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout ΔFgRbp1 in Fusarium while it was rescued by the wild-type (WT) human RBM42. A mouse model carrying Rbm42 compound heterozygous variants, c.280C>T (p.Q94*) and c.1306_1308delinsACA (p.A436T), demonstrated gross fetal developmental defects and most of the double mutant animals died by E13.5. RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing (AS). Overall, we present clinical, genetic, and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.
Female ; Animals ; Mice ; Humans ; Child, Preschool ; Intellectual Disability/genetics* ; Heart Defects, Congenital/genetics* ; Facies ; Cleft Palate ; Muscle Hypotonia

Background: One of the early problems that children born with cleft lip and palate encounter is difficulty in feeding. This affects the child’s nutritional needs and the timing of the surgical intervention. Information on the appropriate feeding methods for children with cleft lip and palate will enable mothers to feed their babies properly and facilitate the implementation of appropriate interventions. Objectives: The study described the feeding problems experienced by children with cleft lip and palate (CLP), and cleft palate (CP) ages 0-24 months, the feeding methods most preferred by Filipino mothers, the methods they found most useful, and the mothers’ reactions to the feeding issues their children face. Methods. The research is a pilot study which used a quantitative, cross-sectional, descriptive mixed method design. Thirty-two (32) mothers of children with cleft lip and palate, and cleft palate answered an 11-item online survey and participated in focused interviews from January to June 2022. Inferential statistics was used specifically frequency distribution to describe the data, and Fishers’ Exact Test and Pearson’s Chi-Square Test were used to analyze the data quantitatively to determine the significant association between the variables identified. Results: Results showed that the feeding problems encountered by the children included nasal regurgitation, sucking, aspiration of liquids, latching on nipples, and swallowing. Mothers preferred to use regular feeding bottles (24.3%), specialized feeding bottles for children with cleft (21.6%), breast feeding and dropper (17.6%), syringe (9.5%), cup (6.8%), and spoon feeding (2.7%) methods. They also mentioned that they found the following feeding methods to be the most useful, regular feeding bottles (32.7%), specialized feeding bottles for cleft (23.1%), breast feeding (11.5%), spoon and dropper feeding (7.7%), and syringe feeding (1.9%). Conclusion The feeding problems experienced by Filipino children with CLP and CP mirror those that have been reported in other studies. The study revealed that mothers still prefer to use the traditional regular feeding bottles in feeding their babies and found this to be the most useful. Maternal reactions of the participants to the cleft condition and its feeding issues are similar to reported studies in other countries. The internet has been the primary source of information on cleft and feeding of the participants in the study.
Feeding Methods ; Cleft Lip ; Palate

Dentofacial deformities secondary to condylar hyperplasiais a kind of disease presenting facial asymmetry, malocclusion, temporomandibular joint dysfunction, and other symptoms caused by non-neoplastic hyperplasia of the condyle. The etiology is still unknown, and currently, pre- and post-operative orthodontics accompanied by orthognathic surgery, temporomandibular joint surgery and jawbone contouring surgery are the main treatment methods. A personalized treatment plan was developed, considering the active degree of condyle hyperplasia, the severity of the jaw deformity, and the patient's will, to correct deformity, obtain ideal occlusal relationship, and regain good temporomandibular joint function. Combined with the author's clinical experience, the etiology, clinical and imageological features, treatment aims, and surgical methods of condylar hyperplasia and secondary dentofacial deformities were discussed in this paper.
Humans ; Dentofacial Deformities/pathology* ; Hyperplasia/pathology* ; Mandibular Condyle/surgery* ; Orthognathic Surgical Procedures ; Temporomandibular Joint/surgery*

OBJECTIVES: This study aimed to explore the relationship between alveolar cleft and secondary nasal deformity post unilateral cleft lip repair in adults. METHODS: A total of 27 patients aged 16-30 years old with unilateral secondary nasal deformity and alveolar cleft were included, 13 of whom underwent bone grafting. Spiral CT data of all preoperative and postoperative patients who had alveolar bone grafting were collected. Then, Mimics software was used for three-dimensional reconstruction to evaluate the correlation between the width, height, and volume of the alveolar cleft and those of the nasal deformity. The difference in nasal deformity before and after alveolar bone grafting was also explored. RESULTS: The width of the alveolar cleft was positively correlated with the difference in bilateral nostril floor width (P<0.05). As the effective depth of the alveolar cleft increased, the sub-alare inclination angle largened (P<0.05). However, no significant difference was found in the nasal deformity between before and after alveolar bone grafting. CONCLUSIONS Alveolar cleft is closely related to secondary nasal deformities post unilateral cleft lip repair, especially nasal floor deformities. Alveolar bone grafting benefits adult patients for the improvement of secondary nasal deformities post unilateral cleft lip repair.
Humans ; Adult ; Adolescent ; Young Adult ; Nose/surgery* ; Cleft Lip/surgery* ; Rhinoplasty/methods* ; Imaging, Three-Dimensional ; Treatment Outcome ; Cleft Palate/complications*

OBJECTIVES: This study aimed to investigate the feasibility of measuring the soft tissue height of bone cristae around implant by digital method. METHODS: A total of 36 patients with dental implants were selected from the Dental Medicine Center of the First Affiliated Hospital of University of Science and Technology of China (Anhui Provincial Hospital) from August 2022 to December 2022. A total of 43 dental implants were enrolled. All postoperative cone beam CT (CBCT) imaging data and intraoral digital impressions obtained before surgery were immediately obtained by the patients on the day of completion of oral implant surgery and they were imported into oral implant surgery planning software for image fitting. Then, virtual implants of the same specification were placed in the planting area, and the implant position was adjusted to overlap with the implant shadow in the CBCT image. Supracrestal tissue height (STH) was measured at the implant view interface (digital group). During the operation, implant holes were prepared step by step in accordance with the standard preparation method, and implants were implanted. The upper edge of the implant was flushed with the crest of the alveolar ridge. STH was measured by perio-dontal probing (periodontal probe group). Paired t-test was used to compare the STH differences between the digital and periodontal probe groups. Bland-Altman test was used to analyze the consistency of the two methods. Intra-group correlation coefficient (ICC) was used to verify the reliability of the results measured by different surveyors using di-gital methods. RESULTS: No statistical significance was observed in the STH difference between the two methods (P>0.05). Bland-Altman test showed good consistency between the two methods, but the measurement of mandibular posterior teeth showed that the results of periodontal probe were greater than those of digital method. The ICC and 95%CI of the STH results measured digitally by different surveyors are 0.992 (0.986-0.996). CONCLUSIONS The digital me-thod is in good agreement with the periodontal probe method in measuring the soft tissue height of the bone cristae around the implant.
Humans ; Alveolar Process/diagnostic imaging* ; Cone-Beam Computed Tomography/methods* ; Dental Implants ; Feasibility Studies ; Reproducibility of Results ; Tooth/diagnostic imaging*

OBJECTIVES: This study aimed to use modified articular disc anchorage in treating old irreducible temporomandibular joint (TMJ) disc displacement with perforation and rupture, as well as to explore its efficacy. METHODS: A total of 31 patients (34 sides) with 47 TMJ disc perforations who underwent surgical treatment in the Affiliated Stomatolo-gical Hospital of Nanchang University from January 2018 to December 2021 were selected. According to the location of disc perforation, it has five types: posterior disc perforation (typeⅠ), anterior disc perforation (typeⅡ), lateral disc perforation (type Ⅲ), composite disc perforation, and destruction disc perforation. The modified methods of disc anchoring were divided into two types according to the location of the perforation. TypesⅠandⅢ disc perforation were trea-ted by posterior anchoring method. For posterior ancho-ring, a screw was implanted into the posterolateral side of the condylar neck, and the disc was fixed on the screw by horizontal mattress suture. TypeⅡdisc perforation and compo-site disc perforation combined typeⅡperforation were treated by anterior and posterior double-anchoring method. For anterior anchoring, anchor screws or holes were placed at the anterior edge of the condylar neck, and horizontal mattress suture was performed at the posterior edge of the anterior perforation with an anchor wire. The articular disc was then fixed on the anchor screws or holes. For the posterior anchoring method, it was the same as the previous one. Paired t test was used to analyze the visual analog scale (VAS), maximum interincisal opening (MIO), and TMJ disorder index (CMI) of the patient before surgery and 1, 3, and 6 months after surgery. Disk-condyle position relationship by magnetic resonance imaging and postoperative quality of life in postoperative were analyzed. RESULTS: The incidence of perforation was 41.2% (14/34) in typeⅠ, 11.8% (4/34) in typeⅡ, 8.8% (3/34) in typeⅢ, 29.4% (10/34) in composite type, and 8.8% (3/34) in destruction type. The VAS, MIO, and CMI at 3, 6 months after operation significantly improved compared with those before operation (P<0.05). The effective reduction rate of disc was 96.77% (30/31). The quality of life at 6 months after surgery was 47.22±2.13, and the rate of excellent evaluation was 96.4% (27/28). CONCLUSIONS Modified articular disc anchorage achieves a good curative effect for treating temporomandibular joint disc perforation and rupture. Nevertheless, its long-term effect requires further observation.
Humans ; Temporomandibular Joint Disc/surgery* ; Quality of Life ; Joint Dislocations/surgery* ; Temporomandibular Joint Disorders/surgery* ; Magnetic Resonance Imaging/methods* ; Temporomandibular Joint/pathology* ; Mandibular Condyle

OBJECTIVES: To investigate the effect of different soft-tissue morphologies on the treatment of skeletal class Ⅰ malocclusion patients by analyzing measurement data before and after treatment. METHODS: Pre- and post-treatment lateral cephalograms of 55 adult female Angle class Ⅰ patients were collected in the Department of Orthodontics, Hospital of Stomatology, Jilin University from January 2012 to December 2020. Chin soft-tissue morphologies in the lateral cranial radiographs were used to divide the patients into an abnormal chin morphology group (flat and retracted chins, n=27) and a normal chin morphology group (rounded and prominent chins, n=28). Relevant soft- and hard-tissue indexes were selected to study in-group varieties and intergroup differences in the varying chin morphologies before and after treatment. RESULTS: The chin-lip angle, mandibular chin angle, mandibular chin vertex angle, PP-MP, LL-E, UL-E, Po-Pos, and B-B' thickness in the abnormal chin morphology group were significantly higher than those in the normal chin morphology group (P<0.05). Furthermore, m∶BMe and n∶B'Mes in the abnormal chin morphology group were signi-ficantly lower than those in the normal chin morphology group (P<0.05). After treatment, the mandibular chin angle, mandibular chin vertex angle, U1-SN, L1-MP, LL-E, UL-E, SNA, SNB, and B-B' thickness of the abnormal chin morphology group significantly decreased (P<0.05), whereas the nasolabial angle, m∶BMe, n∶B' Mes, and Po-Pos significantly increased (P<0.05). In the normal chin morphology group, the U1-SN, L1-MP, LL-E, UL-E, and B-B' thicknesses decreased significantly (P<0.05), whereas the nasolabial angle significantly increased (P<0.05). Among them, m∶BMe and n∶B' Mes were positively correlated. CONCLUSIONS Chin morphology affects the formulation of treatment plans. Compared with the normal chin morphology group, the abnormal chin morphology group required a larger retraction of incisors. Although the chin of soft-tissue morphology is related to the morphology of bones, the changes in soft tissue chin after treatment cannot be directly predicted according to the bone changes. Soft-tissue chin morphology affects the aesthetic assessment of the soft-tissue lateral profile and the change in soft tissue before and after treatment. The method of predicting the change in soft-tissue chin after treatment should consider the morphology of the soft-tissue chin.
Adult ; Humans ; Female ; Chin ; Lip ; Cephalometry/methods* ; Esthetics, Dental ; Mandible

Epidermoid cysts are generally benign neoplastic lesions, the etiology of which is unclear and is mainly related to epithelial cells left in the tissues during the embryonic period and traumatically implanted in the tissues. The most common intraosseous sites are the phalanges and the skull. Epidermoid cysts occurring in the jaws are clinically rare. In this paper, we report a case of epidermoid cyst occurring in the mandible with embedded teeth and discuss the etiology, clinical manifestations, diagnosis, and treatment of epidermoid cysts in the jaws in the context of the relevant literature.
Humans ; Epidermal Cyst/surgery* ; Skull ; Mandible ; Diagnosis, Differential ; Epithelial Cells

Implant treatment in the esthetic area requires stable osseointegration and successful esthetic outcomes. Achieving this goal requires careful consideration of accurate implant axis and ideal three-dimensional position. Owing to the high esthetics and the special anatomical structure of the maxillary, a successful implant means a synthesized deli-beration of the residual bone dimensions, soft-tissue thickness, and the relationship of the residual alveolar ridge with the planned restoration. This article offers an in-depth analysis of the clinical decisions and key factors affecting the implant direction in the esthetic area.
Dental Implantation, Endosseous/methods* ; Dental Implants ; Esthetics, Dental ; Alveolar Ridge Augmentation/methods* ; Osseointegration ; Maxilla/surgery* ; Dental Implants, Single-Tooth

OBJECTIVE: To preliminarily verify the effectiveness of self-designed artificial condyle-mandibular distraction (AC-MD) complex in the treatment of Pruzansky type ⅡB and Ⅲ hemifacial microsomia (HFM) through model test. METHODS: Five children with Pruzansky type ⅡB and Ⅲ HFM who were treated with mandibular distraction osteogenesis (MDO) between December 2016 and December 2021 were selected as the subjects. There were 3 boys and 2 girls wih an average age of 8.4 years (range, 6-10 years). Virtual surgery and model test of AC-MD complex were performed according to preoperative skull CT of children. The model was obtained by three-dimensional (3D) printing according to the children's CT data at a ratio of 1∶1. The occlusal guide plate was designed and 3D printed according to the children's toothpaste model. The results of the model test and the virtual surgery were matched in three dimensions to calculate the error of the residual condyle on the affected side, and the model test was matched with the actual skull CT after MDO to measure and compare the inclination rotation of the mandible, the distance between the condylar of the healthy side and the residual condyle of the affected side, and the lengthening length of the mandible. RESULTS: The error of residual condyle was (1.07±0.78) mm. The inclination rotation of the mandible, the distance between the condylar of the healthy side and the residual condyle of the affected side, and the lengthening length of the mandible after 3D printing model test were significantly larger than those after MDO ( P<0.05). CONCLUSION In the model test, the implantation of AC-MD complex can immediately rotate the mandible to the horizontal position and improve facial symmetry, and the residual condyle segment can be guided close to the articular fossa or the preset pseudoarticular position of the skull base after operation.
Male ; Child ; Female ; Humans ; Goldenhar Syndrome/surgery* ; Mandible/surgery* ; Osteogenesis, Distraction/methods* ; Printing, Three-Dimensional ; Facial Asymmetry/surgery*