OBJECTIVE: To investigate the effectiveness of comprehensive rhinoplasty with autogenous costal cartilage grafting and prosthesis augmentation rhinoplasty in the treatment of secondary nasal deformity with saddle nasal deformity after cleft lip surgery. METHODS: The clinical data of 96 patients with secondary nasal deformity with saddle nasal deformity after cleft lip surgery between September 2008 and January 2019 were retrospectively analyzed. There were 17 males and 79 females with an average age of 25.6 years (range, 17-38 years). Autogenous costal cartilage grafts were used to construct stable nasal tip framework and enhance the strength of alar cartilage. Nasal dorsum prostheses (39 cases of bulge, 45 cases of silicone prosthesis) or autogenous costal cartilage (12 cases) were used for comprehensive rhinoplasty. Visual analogue scale (VAS) score was used to evaluate the postoperative satisfaction subjectively, and nasal alar height symmetry index, nasal alar width symmetry index, nasal dorsum central axis deviation angle, and nasal columella deviation angle were calculated to evaluate objectively before and after operation. RESULTS: All patients were followed up 6 months to 8 years, with an average of 13.4 months. Nasal septal hematoma occurred in 3 patients after operation, which was improved after local aspiration and nasal pressure packing. Two cases had mild deformation of the rib cartilage graft of the nasal dorsum, one of which had no obvious deviation of the nasal dorsum and was not given special treatment, and one case underwent the cartilage graft of the nasal dorsum removed and replaced with silicone prosthesis. The incisions of the other patients healed by first intention, and there was no complication such as postoperative infection and prosthesis displacement. The nasal alar height symmetry index, nasal alar width symmetry index, nasal dorsum central axis deviation angle, and nasal columella deviation angle significantly improved after operation when compared with preoperative ones ( P<0.05). Postoperative subjective satisfaction evaluation reached the level of basic satisfaction or above, and most of them were very satisfied. CONCLUSION Comprehensive rhinoplasty using autologous rib cartilage grafting to construct a stable nasal tip support, combined with dorsal nasal prosthesis or autologous cartilage implantation, can achieve good effectiveness on secondary nasal deformity with saddle nasal deformity after cleft lip surgery.
Male ; Female ; Humans ; Adult ; Rhinoplasty ; Cleft Lip/surgery* ; Retrospective Studies ; Nose/surgery* ; Nasal Septum/surgery* ; Nasal Cartilages/surgery* ; Silicones ; Treatment Outcome

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

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: 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

OBJECTIVES: The long-term effect of muscular force balance reconstruction technique combined with intranasal fixation for correcting secondary nasolabial deformity after unilateral cleft lip was evaluated. The aim was to provide a basis for further improving the surgical treatment effect of secondary nasolabial deformity of acleft lip. METHODS: A total of 40 patients aged 4-28 years with secondary nasal deformity and unilateral cleft lip were selected as research subjects. The two-dimensional photo measurement analysis method was used in comparing the surgical results before and immediately after the operation (7 d) and 1 year after the operation. RESULTS: Columellar angle, nostril height ratio (NHR), alar rim angle, alar rim angle ratio, and nostril shape (NS) increased dimmediately after the operation, whereas alar base width ratio (ABWR) and nostril width ratio decreased (NHR) immediately after the operation (P<0.01). The ABWR, NHR, and NS immediately after the operation were not significantly different from those 1 year after the operation (P>0.05). CONCLUSIONS Muscular force balance reconstruction technique combined with intranasal fixation is effective in the repair of unilateral secondary nasolabial deformity, and stable results can be obtained 1 year after surgery.
Humans ; Cleft Lip/surgery* ; Nose/abnormalities* ; Rhinoplasty/methods* ; Treatment Outcome

OBJECTIVE: To explore the genetic basis for a fetus with limb abnormality and cardiac malformation. METHODS: Clinical data of a fetus diagnosed at the Shandong Provincial Maternal and Child Health Care Hospital on April 30th, 2021 was collected. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. X-inactivation analysis was carried out for the female members of its family. RESULTS: The fetus was found to have meningoencephalocele, absence of bilateral radii, cleft lip, abnormal great arteries, and single umbilical artery at the gestational age of 11+ weeks. Sequencing revealed that the fetus has harbored a hemizygous c.1162del (p.Y388Tfs*7) variant of the FANCB gene, which was maternally inherited. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and ClinGen, the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4). X-inactivation analysis has revealed complete skewed X-inactivation in the pregnant woman and her mother. CONCLUSION The hemizygous c.1162del (p.Y388Tfs*7) variant of the FANCB gene probably underlay the multiple malformations in this fetus.
Female ; Humans ; Pregnancy ; Abnormalities, Multiple ; Cleft Lip ; Fanconi Anemia Complementation Group Proteins ; Fetus ; Gestational Age ; Mothers

OBJECTIVE: To explore the genetic characteristics of a Chinese pedigree affected with van der Woude syndrome (VWS). METHODS: A proband who had visited the Drum Tower Hospital Affiliated to Nanjing University Medical School in May 2020 for "two previous pregnancies with cleft lip and palate" was selected as the study subject. Trio-whole exome sequencing (trio-WES) was carried out for the patient. Candidate variants were verified by Sanger sequencing of her pedigree members (8 individuals from four generations) and bioinformatic analysis. Chromosomal microarray analysis (CMA) was used to rule out copy number variations in the fetuses. RESULTS: Trio-WES revealed that the proband and her father had both harbored a heterozygous c.742G>T (p.G248C) missense variant of the IRF6 gene, for which her mother was of the wild type. The variant was located in a region with important functions and has not been reported previously. Prediction with several software suggested that it is likely to have a significant impact on the protein structure/function and is highly correlated with the specific phenotypes in this pedigree. Sanger sequencing confirmed co-segregation of the genotypes and phenotypes in the pedigree. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), this variant was rated as likely pathogenic (PM1+PM2_Supporting+PP1+PP3+PP4). Based on the above results, pre-implantation genetic diagnosis was carried out for the proband, which has led to birth of a healthy offspring with normal results for both site testing and CMA. CONCLUSION The IRF6: c.742G>T (p.G248C) heterozygous variant probably underlay the VWS in this pedigree. Above finding has also enabled reproductive guidance for the proband.
Humans ; Female ; Cleft Lip/genetics* ; Cleft Palate/genetics* ; Pedigree ; DNA Copy Number Variations ; East Asian People ; Interferon Regulatory Factors/genetics* ; Mutation

The maxillofacial region has multiple functions such as breathing, language, and facial expressions. Children's maxillofacial development is a complex and long process, which is affected by many factors such as genetics, diseases, bad habits and trauma. Early detection, early diagnosis, and early treatment are important concepts in children's maxillofacial management. Digital technology medicine is an emerging technology based on medical imaging and anatomy that has emerged in recent years. The application of this technology in the field of clinical medicine will undoubtedly bring great benefits to children's maxillofacial management. This article summarizes the research on digital technology in children's maxillofacial management, and focuses on the research on children's malocclusion, children's OSA, cleft lip and palate and other related diseases.
Humans ; Child ; Cleft Lip/surgery* ; Cleft Palate/surgery* ; Digital Technology ; Respiration

Non-syndromic oral cleft (NSOC), a common birth defect, remains to be a critical public health problem in China. In the context of adjustment of childbearing policy for two times in China and the increase of pregnancy at older childbearing age, NSOC risk prediction will provide evidence for high-risk population identification and prenatal counseling. Genome-wide association study and second generation sequencing have identified multiple loci associated with NSOC, facilitating the development of genetic risk prediction of NSOC. Despite the marked progress, risk prediction models of NSOC still faces multiple challenges. This paper summarizes the recent progress in research of NSOC risk prediction models based on the results of extensive literature retrieval to provide some insights for the model development regarding research design, variable selection, model-build strategy and evaluation methods.
Humans ; Cleft Palate/genetics* ; Cleft Lip/genetics* ; Genome-Wide Association Study ; Genetic Predisposition to Disease ; Risk Factors ; Polymorphism, Single Nucleotide

The cleft lip and palate (CLP) is one of the most common craniofacial malformations in humans. We collected functional magnetic resonance data of 23 CLP patients before rehabilitation training (Bclp) and 23 CLP patients after rehabilitation training (Aclp), who were performing Chinese character pronunciation tasks, and performed brain activation analysis to explore the changes of brain mechanism in CLP patients after articulation disorder rehabilitation training. The study found that Aclp group had significant activation in the motor cortex, Broca area, Wernicke area and cerebellum. While the Bclp group had weak activation in the motor cortex with a small activation range. By comparing the differences and co-activated brain regions between the two groups, we found that rehabilitation training increased the activity level of negatively activated brain areas (cerebellum, left motor area, Wernicke area, etc.) to a positive level. At the same time, the activity level of weakly activated brain areas (right motor area, Broca area, etc.) was also increased. Rehabilitation training promoted the activity level of articulation-related brain regions. So that the activation intensity of articulation-related brain regions can be used as a quantifiable objective evaluation index to evaluate the effect of rehabilitation training, which is of great significance for the formulation of rehabilitation training programs.
Humans ; Articulation Disorders/therapy* ; Brain/diagnostic imaging* ; Cleft Lip/diagnostic imaging* ; Cleft Palate/diagnostic imaging* ; Magnetic Resonance Imaging ; Speech Therapy/psychology*