Cleft Palate-Craniofacial Journal最新文献

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It's Time to Define the Global Burden of Velopharyngeal Insufficiency. 是时候定义舌咽部功能不全的全球负担了。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-01-31 DOI: 10.1177/10556656251316084
Noah Alter, Amy Stone, Maria Powell, Elisa J Gordon, Beyhan Anan, Usama Hamdan, Zhijun Yin, Matthew E Pontell
{"title":"It's Time to Define the Global Burden of Velopharyngeal Insufficiency.","authors":"Noah Alter, Amy Stone, Maria Powell, Elisa J Gordon, Beyhan Anan, Usama Hamdan, Zhijun Yin, Matthew E Pontell","doi":"10.1177/10556656251316084","DOIUrl":"https://doi.org/10.1177/10556656251316084","url":null,"abstract":"<p><p>Velopharyngeal insufficiency (VPI) predominantly affects children with cleft palate, undermining their ability to communicate. As a result, intelligible speech generation is one of the most important outcomes following cleft palate repair. In low- and middle-income countries (LMICs), the elevated incidence of cleft palate, unavailability of speech services, and suboptimal surgical outcomes has contributed to a substantial yet poorly defined global burden of VPI. Tracking speech outcomes in LMICs is essential to assessing VPI severity and identifying patients needing care. Artificial intelligence and machine learning are well-suited to accommodate this goal.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656251316084"},"PeriodicalIF":1.1,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143069093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comment on "Near-Normalized Maxillomandibular Relationship and Upper Airway in Infants With Robin Sequence Treated With Stanford Orthodontic Airway Plate". “用Stanford正畸气道板治疗Robin序列婴儿近规格化上颌骨关系与上气道”评论。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-01-30 DOI: 10.1177/10556656251313846
G Dave Singh
{"title":"Comment on \"Near-Normalized Maxillomandibular Relationship and Upper Airway in Infants With Robin Sequence Treated With Stanford Orthodontic Airway Plate\".","authors":"G Dave Singh","doi":"10.1177/10556656251313846","DOIUrl":"https://doi.org/10.1177/10556656251313846","url":null,"abstract":"<p><p>It's interesting to note that despite clinical improvements in upper airway dimensions, the maxillary, mandibular, and mandibular body lengths remained smaller than those of controls. This finding may represent an underlying neurocristopathy, which represents a deficiency in the population of neural crest cells available in the embryonic maxillary and mandibular processes de novo. Indeed, it is known that craniofacial dimensions in infants with malformations, such as cleft palate, are often smaller when compared to non-cleft counterparts. The post-treatment decrease in the SNA angle and increase in angle SNB, which resulted in a decreased ANB angle may be associated with a \"headgear effect\" whereby the maxilla is dragged postero-inferiorly by the mandible, aided by gravity. To avoid this effect, proactive maxillary development might be beneficial. In fact, the concept of \"catch-up growth\" is also noteworthy since a developmental mechanism would need to be invoked. The authors referred to the old Functional matrix hypothesis, but the treatment effect was primarily a change in jaw position, which evoked a positive functional outcome. Thus, according to the Spatial matrix hypothesis, clinical decompensation of a dysfunctional spatial matrix leads to a cascade of events since a change in mandibular position is associated with changes in gene expression. Recently, genetic expression of Sdf1 and Foxc1 associated with histologic changes following mandibular advancement in rats has been reported as well as the effects of the PINK1/Parkin pathway on the genioglossus muscle through mandibular advancement device use in rabbits with obstructive sleep apnea. Clinically, therapeutic epigenetic changes using an orthodontic mandibular advancement device have also been reported in children.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656251313846"},"PeriodicalIF":1.1,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143069147","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cleft Lip and Palate Research in the United Kingdom: Advances in Clinical Psychological Knowledge and Future Directions. 英国唇腭裂研究:临床心理学知识进展及未来方向。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-01-28 DOI: 10.1177/10556656251315659
Matthew Hotton, Laura Shepherd, Nicola M Stock
{"title":"Cleft Lip and Palate Research in the United Kingdom: Advances in Clinical Psychological Knowledge and Future Directions.","authors":"Matthew Hotton, Laura Shepherd, Nicola M Stock","doi":"10.1177/10556656251315659","DOIUrl":"https://doi.org/10.1177/10556656251315659","url":null,"abstract":"<p><p>In 2012, the James Lind Alliance (JLA) worked with individuals with cleft lip and/or palate (CL/P), their families and clinicians to identify priority areas for future research. This article reviews progress conducted in the United Kingdom in the 3 JLA priorities most closely related to Clinical Psychology. It then builds upon the original priorities to identify 4 future directions, based on contemporary literature and in-depth discussions between clinical and research experts. Finally, recommendations for next steps toward meeting these future directions are outlined, including consistent outcome measurement, engaging diverse groups of people with CL/P and embedding the principles of codesign.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656251315659"},"PeriodicalIF":1.1,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143054015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Modified Uvular Repair in Children Undergoing Palatoplasty. 改良小舌修复术在儿童腭成形术中的应用。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-01-28 DOI: 10.1177/10556656251315656
Pritham N Shetty, Krishnamurthy Bonanthaya, Centina Rose John, Dipesh Rao
{"title":"Modified Uvular Repair in Children Undergoing Palatoplasty.","authors":"Pritham N Shetty, Krishnamurthy Bonanthaya, Centina Rose John, Dipesh Rao","doi":"10.1177/10556656251315656","DOIUrl":"https://doi.org/10.1177/10556656251315656","url":null,"abstract":"<p><strong>Background: </strong>Paucity exists in the literature on uvular repair while documenting palatoplasty techniques for children with cleft palate.</p><p><strong>Solution: </strong>We propose a modified approach without losing any soft tissue structures, gaining better cosmetic outcome, and possibly having functional gains postoperatively.</p><p><strong>What we did that is new: </strong>The proposed technique provides better cosmesis for the structures postoperatively and enhances the palatoglossal arch, which may prevent the spillage of saliva to the oropharyngeal region.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656251315656"},"PeriodicalIF":1.1,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Two-Year Progressive Cranial Changes Following the Melbourne Technique for Sagittal Craniosynostosis. 矢状面颅缝闭闭的墨尔本技术治疗后的两年进行性颅骨改变。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-01-28 DOI: 10.1177/10556656251314966
Lucas M Harrison, Kayla Prezelski, Rami R Hallac, Alex A Kane, Paymon Sanati-Mehrizy
{"title":"Two-Year Progressive Cranial Changes Following the Melbourne Technique for Sagittal Craniosynostosis.","authors":"Lucas M Harrison, Kayla Prezelski, Rami R Hallac, Alex A Kane, Paymon Sanati-Mehrizy","doi":"10.1177/10556656251314966","DOIUrl":"https://doi.org/10.1177/10556656251314966","url":null,"abstract":"<p><strong>Objective: </strong>The Melbourne technique for total cranial vault remodeling aims to address all aspects of scaphocephaly in sagittal craniosynostosis. These features include anterior-posterior excessive length, anteriorly displaced vertex position, frontal bossing, vertex narrowing, and occipital bulleting. This study aimed to determine the progressive cranial changes that occur following the Melbourne technique for sagittal craniosynostosis.</p><p><strong>Design: </strong>Retrospective review of 3-dimensional images collected preoperatively and postoperatively at 3 weeks, 3 months, 1 year, and 2 years.</p><p><strong>Setting: </strong>Tertiary care pediatric institution.</p><p><strong>Participants: </strong>Twenty-five patients with sagittal craniosynostosis.</p><p><strong>Interventions: </strong>The Melbourne technique for total cranial vault remodeling.</p><p><strong>Main outcome measure(s): </strong>Head circumference, cephalic index, frontal bossing index, occipital bulleting index, vertex narrowing index, and vertex-nasion-opisthocranion (VNO) angle were evaluated.</p><p><strong>Results: </strong>The cephalic index significantly increased postoperatively (<i>P</i> = .04) with a subsequent relapse at 3 months followed by progressively increased growth. The frontal bossing index significantly decreased postoperatively (<i>P</i> = .02) with a progressive decrease. The occipital bullet index had a relative decline postoperatively with relapse at 3 months, followed by a progressive decrease. The vertex narrowing index significantly decreased postoperatively (<i>P</i> < .001), with a plateau and slight relapse. The VNO angle showed a relative decline over time with a significant decrease by 1 year of age (<i>P</i> = .002).</p><p><strong>Conclusions: </strong>The Melbourne technique improved the cephalic index, frontal bossing, vertex narrowing, occipital bulleting, and vertex positioning at 2 years of age. Cephalic index and occipital bulleting showed slight relapse at 3 months, followed by progressive improvement over time.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656251314966"},"PeriodicalIF":1.1,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143053835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Perioperative Outcomes of Spring-Assisted Cranioplasty, Distraction Osteogenesis Versus Conventional Expansion in Craniosynostosis: A Systematic Review and Meta-Analysis. 弹簧辅助颅骨成形术、牵张成骨术与常规扩张术治疗颅缝闭合症的围手术期疗效:系统回顾和荟萃分析。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-01-28 DOI: 10.1177/10556656241308034
Indri Lakhsmi Putri, Rizka Uswatun Hasanah, Imaniar Fitri Aisyah, Rachmaniar Pramanasari, Citrawati Dyah Kencono Wungu
{"title":"Perioperative Outcomes of Spring-Assisted Cranioplasty, Distraction Osteogenesis Versus Conventional Expansion in Craniosynostosis: A Systematic Review and Meta-Analysis.","authors":"Indri Lakhsmi Putri, Rizka Uswatun Hasanah, Imaniar Fitri Aisyah, Rachmaniar Pramanasari, Citrawati Dyah Kencono Wungu","doi":"10.1177/10556656241308034","DOIUrl":"https://doi.org/10.1177/10556656241308034","url":null,"abstract":"<p><strong>Objectives: </strong>This study compares perioperative outcomes between spring-assisted cranioplasty (SAC), distraction osteogenesis (DO) and conventional expansion in craniosynostosis surgery.</p><p><strong>Design: </strong>Systematic review and meta-analysis.</p><p><strong>Setting: </strong>Retrospective and prospective cohort.</p><p><strong>Patients and participants: </strong>A comprehensive electronic search was conducted using PubMed/Medline, Scopus, Science Direct, EBSCO, Web of Science, and Cochrane Library, alongside Gray literature sources (SSRN, Scopus preprint, and MedRxiv). Publication bias was assessed and study quality was evaluated using the Newcastle Ottawa Scales (NOS).</p><p><strong>Interventions: </strong>SAC or DO.</p><p><strong>Main outcome measures: </strong>Blood loss and blood transfusion.</p><p><strong>Results: </strong>Thirteen studies were included, with 7 studies comparing DO versus conventional and 6 comparing SAC vs conventional. All studies met eligibility criteria for meta-analysis, with study quality ranged from good to very good. Compared to conventional, the SAC or DO significantly reduced blood loss (MD = -190.42 mL), and blood transfusion (MD = -227.22). Additionally, SAC and DO shorten operative time (MD = -94.38 min), anesthesia duration (MD = -114.81 min), hospital stay (MD = -0.68 days), and ICU stay (MD = -1.00 days). Long-term follow-up showed a lower reoperation rate (OR = 0.20), but no significant change in cranial index at 10 years (MD = 0.06, <i>P</i> = .74).</p><p><strong>Conclusions: </strong>SAC or DO result in lower perioperative complications, overall shorter durations, and reduced reoperation rates compared to conventional expansion. Standardized postoperative outcome reports are useful to classify the severity of complications and guide the future long-term treatment strategies for craniosynostosis surgery.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656241308034"},"PeriodicalIF":1.1,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143053814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Epidemiological Patterns and Geospatial Mapping of Cleft Lip/Palate in a Comprehensive Cleft Center in Northwestern Nigeria: Estimating Distribution Using Geographical Information Systems. 尼日利亚西北部一个综合性唇腭裂中心的流行病学模式和地理空间制图:使用地理信息系统估计分布。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-01-28 DOI: 10.1177/10556656251313954
Adetayo Aborisade, Chika O Oguchi, Joshua B Adeoye, Murtala M Badamasi, Abdu N Ibrahim, Rafael Adebola, Azeez Butali
{"title":"Epidemiological Patterns and Geospatial Mapping of Cleft Lip/Palate in a Comprehensive Cleft Center in Northwestern Nigeria: Estimating Distribution Using Geographical Information Systems.","authors":"Adetayo Aborisade, Chika O Oguchi, Joshua B Adeoye, Murtala M Badamasi, Abdu N Ibrahim, Rafael Adebola, Azeez Butali","doi":"10.1177/10556656251313954","DOIUrl":"https://doi.org/10.1177/10556656251313954","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to estimate the geospatial distribution of cleft lip/palate (CL/P) cases in northwestern Nigeria and to estimate the prevalence and patterns of CL/P across wards.</p><p><strong>Design: </strong>This retrospective study utilized information from health records for inpatients with CL/P. These data were analyzed via descriptive statistics. Spatial mapping involves geocoding street addresses into map coordinate system before aggregation for subsequent spatial analyses.</p><p><strong>Setting: </strong>The center used was a nongovernmental organization clinic that manages CL/P.</p><p><strong>Participants: </strong>All patients managed during the study period under 15 years were selected for the study, while the spatial analysis included all patients with valid addresses.</p><p><strong>Results: </strong>A total of 1556 cases were selected, while spatial analyses mapped 928 cases. The analysis indicated over half (54.4%, <i>n</i> = 505 patients) lived in Kano Metropolis, whereas 45.6% (<i>n</i> = 423 patients) lived outside the Metropolis. CL/P prevalence correlated with the population density pattern in Kano. The prevalence of clefts was highest in Metropolis in 2008, and the Metropolis had the highest prevalence of clefts for children under 5 years of age. The significant patient and maternal factors were age (<i>P</i> < .001), weight (<i>P</i> < .001), socioeconomic status (<i>P</i> < .003), positive family history of cleft (<i>P</i> < .001), and maternal factors.</p><p><strong>Conclusion: </strong>The GIS analysis revealed that most patients with CL/P who received treatment at the NGO lived nearby, with the greatest prevalence of clefts occurring in the Metropolis. The cost of travel may explain why those further afield do not come in for treatment or lack public awareness about the services provided at the cleft clinic.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656251313954"},"PeriodicalIF":1.1,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143054016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An Overview of the Currently Used Congenital Auricular Anomalies (CAA) Classifications for Surgical Reconstruction: A Scoping Review. 目前用于外科重建的先天性耳廓畸形(CAA)分类综述:范围审查。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-01-23 DOI: 10.1177/10556656241310101
Yangyang Lin, Elsa M Ronde, Lieve de Voort, Corstiaan C Breugem
{"title":"An Overview of the Currently Used Congenital Auricular Anomalies (CAA) Classifications for Surgical Reconstruction: A Scoping Review.","authors":"Yangyang Lin, Elsa M Ronde, Lieve de Voort, Corstiaan C Breugem","doi":"10.1177/10556656241310101","DOIUrl":"https://doi.org/10.1177/10556656241310101","url":null,"abstract":"<p><p>CAAs are congenital malformations of the auricle ranging from ear underdevelopment to anotia, lacks standardized classification, impacting our outcome of different reconstruction approaches. This scoping review aimed to explore which CAA classifications are most used in current ear reconstruction practices.</p><p><p>We conducted a scoping review following the PRISMA guidelines, searching MEDLINE and Embase databases on November 1st, 2023. Studies on CAA reconstruction that included clear descriptions of the used classification published in the past 5 years were included. Studies were appraised using the Joanna Briggs Institute checklist.</p><p><p>Out of 293 screened studies, 45 met inclusion criteria, encompassing 19 case series and 5 cohort studies. Findings revealed a predominant use of the Nagata classification across rib cartilage and alloplastic material reconstructions, despite noted application inconsistencies. Other systems like Marx's, Weerda's, and Meurman's remain underutilized.</p><p><p>Most studies used the Nagata's classification. Its widespread use underscores the necessity for an easy to use, but standardized classification to improve surgical outcome reporting and assessment accuracy. Further investigation and standardization efforts regarding the Nagata system are recommended.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656241310101"},"PeriodicalIF":1.1,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Alveolar Bone Quality in Individuals With Cleft Lip and Palate With Missing Lateral Incisors: Orthodontic Space Closure Versus Space Opening. 缺失侧切牙的唇腭裂患者的牙槽骨质量:正畸间隙封闭与间隙开放。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-01-23 DOI: 10.1177/10556656241312499
Malak Aldosari, Jay Shah, Jaemin Ko, Snehlata Oberoi
{"title":"Alveolar Bone Quality in Individuals With Cleft Lip and Palate With Missing Lateral Incisors: Orthodontic Space Closure Versus Space Opening.","authors":"Malak Aldosari, Jay Shah, Jaemin Ko, Snehlata Oberoi","doi":"10.1177/10556656241312499","DOIUrl":"https://doi.org/10.1177/10556656241312499","url":null,"abstract":"<p><p>The purpose of this study was to quantitatively assess the alveolar bone support of teeth adjacent to the cleft site in individuals with nonsyndromic cleft lip and palate (CLP) who have undergone either orthodontic space closure or space opening for missing lateral incisors.</p><p><p>A cross-sectional retrospective study.</p><p><p>University orthodontic clinic serving individuals with CLP.</p><p><p>Twenty-eight individuals with nonsyndromic CLP who were missing lateral incisors divided into 2 groups: space closure (21 subjects) and space opening (7 subjects).</p><p><p>Orthodontic space closure or space opening for replacement of missing lateral incisors in individuals with nonsyndromic CLP.</p><p><p>Buccal and palatal alveolar bone thickness were measured at 5 mm and 10 mm above the cementoenamel junction (CEJ) for cleft-adjacent central incisors and canines. Additionally, buccal, lingual, and proximal alveolar bony coverage ratio on cleft-side central incisors and canines were recorded.</p><p><p>No significant differences were observed in alveolar bone thickness and bony coverage between the space closure group and the space opening group, except for the buccal thickness 5 mm above the CEJ, which was thinner in the space closure group.</p><p><p>The overall alveolar bone support in the grafted alveolus in both the space closure and space opening groups were comparable.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656241312499"},"PeriodicalIF":1.1,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identifying New Susceptibility Genes of Non-Syndromic Orofacial Cleft Based on Syndromes Accompanied With Craniosynostosis. 基于伴颅缝闭合综合征的非综合征性口面裂新的易感基因鉴定。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-01-22 DOI: 10.1177/10556656251313842
Si-Di Zhang, Yan-Song Lin, Bing Shi, Zhong-Lin Jia
{"title":"Identifying New Susceptibility Genes of Non-Syndromic Orofacial Cleft Based on Syndromes Accompanied With Craniosynostosis.","authors":"Si-Di Zhang, Yan-Song Lin, Bing Shi, Zhong-Lin Jia","doi":"10.1177/10556656251313842","DOIUrl":"https://doi.org/10.1177/10556656251313842","url":null,"abstract":"<p><strong>Objectives: </strong>Orofacial cleft (OC) can be classified into syndromic orofacial cleft (SOC) and non-syndromic orofacial cleft (NSOC), depending on whether there are other congenital deformities. Craniosynostosis, the premature closure of cranial sutures, is a common phenotype of SOC resulting in abnormal ossification of skull and brain development disorders. Its correlation with OC offers a promising approach to identify susceptibility genes for NSOC by examining causative genes of SOCs with craniosynostosis.</p><p><strong>Materials and methods: </strong>This study included 2556 patients with NSOC and 2255 normal controls from western Han Chinese with their genomic DNA samples. We selected 31 causative genes of 34 syndromes with both craniosynostosis and OC as candidate genes and performed quality control. Allelic and genotypic association analyses and haplotype analysis were performed to identify statistically significant single nucleotide polymorphisms (SNPs).</p><p><strong>Results: </strong>In allelic association analysis performed with 1265 qualified SNPs in 20 genes, only rs2239936, located in <i>MYH3</i> gene, was statistically associated with non-syndromic cleft lip only (NSCLO) (<i>P </i>= 1.70×10<sup>-07</sup>, OR<i> </i>=<i> </i>1.33, 95%CI: 1.17-1.52) and non-syndromic cleft palate only (NSCPO) (<i>P </i>= 6.43×10<sup>-05</sup>, OR<i> </i>=<i> </i>1.33, 95%CI: 1.16-1.52). The higher frequency of allele G in NSCPO suggesting that minor allele G at rs2239936 will result in an elevated risk of NSCPO. However, rs2239936 only exhibited a statistical association with NSCPO in genotypic association analysis (<i>P </i>= 8.06×10<sup>-06</sup>) and haplotype analysis (<i>P </i>= 1.43×10<sup>-05</sup>).</p><p><strong>Conclusion: </strong>This study identified that allele G at rs2239936 in <i>MYH3</i> gene was significantly associated with NSCPO as a risk factor and <i>MYH3</i> was a new susceptibility gene for NSCPO in western Han Chinese population.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656251313842"},"PeriodicalIF":1.1,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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