Cleft Palate-Craniofacial Journal最新文献

筛选
英文 中文
Does the Rigid External Distraction Device Allow for Long-Term Control of Maxillary Pitch in Cleft Maxillary Distraction? 刚性外牵张装置是否能长期控制腭裂上颌牵张患者的上颌音高?
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-11-01 Epub Date: 2026-03-16 DOI: 10.1177/10556656261431242
Alexander T Mathews, Brian E Kinard
{"title":"Does the Rigid External Distraction Device Allow for Long-Term Control of Maxillary Pitch in Cleft Maxillary Distraction?","authors":"Alexander T Mathews, Brian E Kinard","doi":"10.1177/10556656261431242","DOIUrl":"10.1177/10556656261431242","url":null,"abstract":"<p><p>ObjectiveIt has been reported that the rigid external distraction (RED) device is unable to intentionally alter the maxillary pitch following consolidation (short term). The purpose of this study is to assess the long-term ability of RED to intentionally control the maxillary pitch.DesignRetrospective cohort study.SettingInstitutional practice.PatientsA retrospective cohort of 40 patients with cleft maxillary hypoplasia meeting the inclusion criteria.Main outcome measuresCephalometric changes and alteration in palatal plane angle.MethodsCephalometric analysis was completed standardized lateral cephalograms. Predistraction and long-term follow-up variables were compared via a paired <i>t</i> test.ResultsThe mean age at surgery of 12.2 ± 3.7 years. Through distraction osteogenesis, the mean change in the angles sella-nasion-A-point angle, sella-nasion-B point angle, and A-point-nasion-B-point angle were 4.8 ± 5.9, 2.4 ± 3.5, and 2.4 ± 5.4, respectively. The mean change in the palatal plane angle was -2.1 ± 4.7. The mean change in the vertical position of the anterior nasal spine and posterior nasal spine in relation to the Frankfort horizontal were -0.7 ± 4.0 mm and 0.9 ± 4.1 mm, respectively. The mean percent of maxillary advancement relative to maxillary length was 28.0 ± 12.1%.ConclusionThis study documents the long-term findings of RED in a cleft lip and palate population. Despite the design of the RED device to allow for a clockwise rotation of the maxilla, a persistent counterclockwise rotation of the maxilla was found. This study demonstrates that RED reliably allows for long-term horizontal lengthening of the maxilla but does not predictably allow for control of the maxillary occlusal plane.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"3798-3804"},"PeriodicalIF":1.3,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147464162","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
Comparison on the Success of Secondary Alveolar Bone Grafting Performed Below 12 Years and On or After 12 Years of Age for Patients With Cleft Alveolus: A Systematic Review and Meta-Analysis. 12岁以下与12岁或12岁后牙槽裂患者二次牙槽骨移植成功率的比较:系统回顾和荟萃分析。
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-11-01 Epub Date: 2026-02-17 DOI: 10.1177/10556656261420691
Rajeswari Siva, Balavenkata Bharathi Chaturvedula, Saikrupa Ganesan, Badri Thiruvenkatachari
{"title":"Comparison on the Success of Secondary Alveolar Bone Grafting Performed Below 12 Years and On or After 12 Years of Age for Patients With Cleft Alveolus: A Systematic Review and Meta-Analysis.","authors":"Rajeswari Siva, Balavenkata Bharathi Chaturvedula, Saikrupa Ganesan, Badri Thiruvenkatachari","doi":"10.1177/10556656261420691","DOIUrl":"10.1177/10556656261420691","url":null,"abstract":"<p><p>AimThe aim of this systematic review and meta-analysis was to compare the outcomes of secondary alveolar bone grafting (SABG) performed before and after 12 years of age in patients with nonsyndromic cleft alveolus.MethodAll relevant studies from database untill September 2024 were identified through all relevant databases. Randomized Controlled Trials (RCTs), Controlled Clinical Trials (CCTs), prospective, and retrospective studies were included.PopulationPatients with cleft alveolus who underwent SABG using iliac crest bone graft.InterventionEarly SABG performed below 12 years.ComparisonSABG performed on or after 12 years of age.Primary outcomeBone fill assessed through radiographic imaging techniques. Secondary outcomes included skeletal relationship, canine eruption, Asher-Mcdade index, Goslon yardstick index, presence of oronasal fistula, and revision surgeries. All articles were screened for the title, abstract, and full text by 2 reviewers independently and in duplicate. Risk of bias was assessed for RCT using Cochrane's risk of bias tool and the CCT was assessed using the ROBINS-I tool.ResultsOf the 3545 records identified, 9 studies met the inclusion criteria for qualitative and quantitative synthesis. Eight of the 9 included studies were rated as having moderate to serious risk of bias, and one judged as critical risk of bias. There is very low-quality evidence in favor of secondary grafting performed below 12 years of age compared to secondary grafting performed on or after 12 years.ConclusionFuture high-quality RCTs with standardized protocols are necessary to determine the most effective timing for SABG in cleft care.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"3593-3607"},"PeriodicalIF":1.3,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146214674","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
Levator Veli Palatini Reconstruction Using an Autologous Tendon Graft in Velopharyngeal Insufficiency: What I Do. 自体肌腱移植修复腭咽功能不全的提上腭肌:我该怎么做?
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-11-01 Epub Date: 2026-02-25 DOI: 10.1177/10556656261422851
Mohammad Ali Hoghoughi, Sara Hashemi, Zahra Kalkateh
{"title":"Levator Veli Palatini Reconstruction Using an Autologous Tendon Graft in Velopharyngeal Insufficiency: What I Do.","authors":"Mohammad Ali Hoghoughi, Sara Hashemi, Zahra Kalkateh","doi":"10.1177/10556656261422851","DOIUrl":"10.1177/10556656261422851","url":null,"abstract":"<p><p>BackgroundSevere velopharyngeal insufficiency following salvage surgery poses a major challenge for cleft surgeons, particularly when repeated operations have left the soft palate both shortened and densely scarred.SolutionA tendon graft technique for levator veli palatini reconstruction is described, using an autologous palmaris longus (PL) or, when absent, a flexor carpi radialis (FCR) tendon graft to re-establish the muscular function necessary for velopharyngeal closure.NoveltyUnlike approaches that only address tissue deficiency, this method restores the levator sling by connecting residual muscle stumps with autologous tendon, thereby reconstituting anatomical continuity. In the present case, PL was absent, and FCR was successfully used as the graft.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"4017-4019"},"PeriodicalIF":1.3,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147286010","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
Simultaneous Orthognathic Surgery and Costal Bone Grafting in Hemifacial Microsomia: A Rare Case Report and Literature Review. 同时正颌手术及肋骨移植治疗面肌短小症一例罕见病例报告及文献复习。
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-11-01 Epub Date: 2026-03-03 DOI: 10.1177/10556656261426396
Chi Hyun Lee, Hyun Seung Lee, Youn-Kyung Choi, Lun-Jou Lo, So Yeon Jung, Rafael Denadai, Hyung Joon Seo
{"title":"Simultaneous Orthognathic Surgery and Costal Bone Grafting in Hemifacial Microsomia: A Rare Case Report and Literature Review.","authors":"Chi Hyun Lee, Hyun Seung Lee, Youn-Kyung Choi, Lun-Jou Lo, So Yeon Jung, Rafael Denadai, Hyung Joon Seo","doi":"10.1177/10556656261426396","DOIUrl":"10.1177/10556656261426396","url":null,"abstract":"<p><p>Hemifacial microsomia (HFM) is a congenital craniofacial anomaly frequently associated with mandibular hypoplasia. Achieving stable correction in severe cases remains challenging due to abnormal mandibular anatomy and deficient temporomandibular joint structures. We report a rare revision case of a 20-year-old female with type IIA HFM who developed progressive postoperative resorption following two-jaw surgery, resulting in a \"floating\" ramus-condyle segment and subsequent recurrent facial asymmetry. Revision surgery consisted of unilateral sagittal split ramus osteotomy on the unaffected side, combined with long-plate fixation and costal bone grafting on the affected side. A distal portion of the harvested costal bone was trimmed and vertically split into smaller fragments and interposed as free bone grafts between the proximal and distal mandibular segments, while the main portion was applied laterally as an onlay graft. Postoperative follow-up confirmed preservation of mandibular height with an acceptable occlusion, and secondary fat grafting further refined the soft-tissue contour. This case suggests that integrating orthognathic surgery with autogenous bone grafting may provide a durable solution in complex revision scenarios. It also highlights the importance of individualized planning and combined skeletal-soft tissue approaches to achieve favorable aesthetics.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"3987-3994"},"PeriodicalIF":1.3,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147345503","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
Corrigendum to "Neuroendocrine Axis Investigation in Patients with Arhinia, Hemiarhinia and Associated Malformations". 对“神经内分泌轴在肛门、半肛门和相关畸形患者中的调查”的更正。
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-11-01 Epub Date: 2026-02-16 DOI: 10.1177/10556656261425765
{"title":"Corrigendum to \"Neuroendocrine Axis Investigation in Patients with Arhinia, Hemiarhinia and Associated Malformations\".","authors":"","doi":"10.1177/10556656261425765","DOIUrl":"10.1177/10556656261425765","url":null,"abstract":"","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"4020"},"PeriodicalIF":1.3,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146207987","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
Piloting Patient Reported Outcome Measures in Cleft Lip and Palate Services in Aotearoa New Zealand. 试点患者报告的结果措施在唇腭裂服务在新西兰奥特罗阿。
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-11-01 Epub Date: 2026-04-15 DOI: 10.1177/10556656261431254
Kenny Ardouin, Nicola Stock, Tika Ormond, Phoebe Macrae
{"title":"Piloting Patient Reported Outcome Measures in Cleft Lip and Palate Services in Aotearoa New Zealand.","authors":"Kenny Ardouin, Nicola Stock, Tika Ormond, Phoebe Macrae","doi":"10.1177/10556656261431254","DOIUrl":"10.1177/10556656261431254","url":null,"abstract":"<p><p>ObjectiveStandardized patient-reported outcome measures (PROMs) are rarely used in cleft lip and palate (CL/P) care within New Zealand (NZ). This pilot study sought to obtain a baseline of patient-reported outcomes in NZ and evaluate clinicians' experiences of implementing PROMs into CL/P services.DesignA mixed methods cross-sectional design using CLEFT-Q scales. Data were compared to published CL/P CLEFT-Q norms using <i>t</i>-tests, and within-group differences were investigated. Qualitative interviews were analyzed using codebook thematic analysis.SettingFive CL/P teams in Aotearoa New Zealand.ParticipantsPatients aged 12+ years (<i>n</i> = 101) were recruited through the five Health NZ CL/P teams between April 2023-March 2024. Five CL/P team members responsible for recruitment participated in an interview at the conclusion of the trial.ResultsCompared with normative data, patients reported more favorable outcomes on speech distress and school function, and poorer psychological function. Speech and social function scores were aligned with CL/P norms. Patients aged 18+ reported the lowest psychological functioning and females reported the lowest social functioning. Clinicians recognized the value of PROMs, yet highlighted concerns about insufficient resourcing to administer, review, and provide follow-up.ConclusionsPsychological function is indicated as an area of concern, particularly for adults with CL/P. Routine use of PROMs would evaluate change in measures of function over time and enhance patient-centered holistic care. Greater personnel and IT resourcing would facilitate routine implementation of PROMs in CL/P teams.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"3805-3816"},"PeriodicalIF":1.3,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646430/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147693035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Can the Social Vulnerability Index Enhance Models Predicting Adherence to Craniofacial Speech Evaluations? 社会脆弱性指数能增强颅面语言评估依从性的预测模型吗?
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-11-01 Epub Date: 2026-04-03 DOI: 10.1177/10556656261436717
Bo Hyun Kong, Katherine Dillon, Colin M Brady, Stefanie E Hush, Alexis Tashima, Magdalena Soldanska, Joseph K Williams, Kazlin N Mason
{"title":"Can the Social Vulnerability Index Enhance Models Predicting Adherence to Craniofacial Speech Evaluations?","authors":"Bo Hyun Kong, Katherine Dillon, Colin M Brady, Stefanie E Hush, Alexis Tashima, Magdalena Soldanska, Joseph K Williams, Kazlin N Mason","doi":"10.1177/10556656261436717","DOIUrl":"10.1177/10556656261436717","url":null,"abstract":"<p><p>ObjectiveTo determine whether the Centers for Disease Control and Prevention's Social Vulnerability Index (SVI) influences models of adherence to speech evaluations beyond individual demographic and clinical factors.DesignRetrospective cohort analysis.SettingTertiary children's hospital in the United States.ParticipantsFive hundred thirty-five children with cleft-related diagnoses scheduled for speech evaluations.Main Outcome MeasureAdherence to initial and follow-up speech evaluations.ResultsSVI was not predictive for adherence in logistic regression models. Children with private insurance had higher odds (OR) of attending initial evaluation (OR = 2.14, <i>P</i> < .001). Those with more severe cleft phenotypes were more likely to attend both initial (ORs 4.11-4.35, <i>P</i> < .001) and follow-up visits (ORs 6.29-7.49, <i>P</i> < .001). Children with velopharyngeal dysfunction and compensatory errors were also more likely to remain engaged in care.ConclusionSVI did not improve prediction of adherence. Insurance type, cleft phenotype, and speech function are the dominant factors influencing adherence to recommended speech evaluations.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"3963-3968"},"PeriodicalIF":1.3,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147610345","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
Disparities in Cleft Care for Hispanic/Latino Patients in the United States: A Systematic Review and Meta-Analysis. 美国西班牙裔/拉丁裔患者唇腭裂护理的差异:系统回顾和荟萃分析。
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-11-01 Epub Date: 2026-02-25 DOI: 10.1177/10556656261420517
Antoinette T Nguyen, Rena A Li, Robert D Galiano, Arun K Gosain
{"title":"Disparities in Cleft Care for Hispanic/Latino Patients in the United States: A Systematic Review and Meta-Analysis.","authors":"Antoinette T Nguyen, Rena A Li, Robert D Galiano, Arun K Gosain","doi":"10.1177/10556656261420517","DOIUrl":"10.1177/10556656261420517","url":null,"abstract":"<p><p>ObjectiveTo systematically evaluate disparities in access, timing, and outcomes of cleft care for Hispanic/Latino patients in the United States.DesignSystematic review and random-effects meta-analysis conducted per PRISMA guidelines (PROSPERO CRD420251053224).SettingUS-based studies using national databases, state registries, and institutional cohorts.Patients, ParticipantsHispanic/Latino children with cleft lip and/or palate compared to non-Hispanic White children.InterventionsPrimary cleft lip and palate repair and secondary cleft-related procedures, including alveolar bone grafting.Main Outcome Measure(s)Timing of surgical interventions, postoperative complications, mortality, hospital charges, secondary procedure utilization, and patient-reported outcomes.ResultsTwenty-eight studies encompassing 30,006 Hispanic/Latino patients met inclusion criteria. Eight studies addressed surgical timing: Hispanic/Latino patients had significantly delayed primary repairs (eg, adjusted hazard ratio [aHR] 0.90 for cleft lip repair; odds ratio [OR] 2.76 for delayed palate repair) and higher rates of bone grafting after age 12 (24.4% vs. 19.4%, <i>P</i> = .0049). Three studies reported mixed patterns of secondary procedure utilization, with underuse of some operations (OR 0.29 for higher surgery frequency) but overrepresentation in cleft rhinoplasty (OR 1.36). Two national datasets showed elevated cleft-related mortality (OR 1.54; HR 1.3-1.7). While postoperative complication rates were largely equivalent, Hispanic/Latino patients experienced longer hospital stays and higher charges in several analyses. Meta-analysis of 2 studies on delayed surgery yielded a pooled OR of 2.11 (95% confidence interval 0.23-19.80) with low heterogeneity but wide uncertainty.ConclusionsHispanic/Latino patients face multifaceted disparities in cleft care-particularly delayed surgery and fragmented follow up-despite comparable technical outcomes. Targeted interventions addressing structural, linguistic, and cultural barriers are needed to advance equity in cleft treatment.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"3646-3661"},"PeriodicalIF":1.3,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147286005","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
Decision-Making at the Transition Period: Widening the Lens Around Psychosocial and Cultural Factors in Cleft Orthognathic Surgery. 过渡时期的决策:在正颌裂手术中扩大社会心理和文化因素的视野。
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-11-01 Epub Date: 2026-04-20 DOI: 10.1177/10556656261439955
Holly Clegg, Kiki Mastroyannopoulou, Eliane Young
{"title":"Decision-Making at the Transition Period: Widening the Lens Around Psychosocial and Cultural Factors in Cleft Orthognathic Surgery.","authors":"Holly Clegg, Kiki Mastroyannopoulou, Eliane Young","doi":"10.1177/10556656261439955","DOIUrl":"10.1177/10556656261439955","url":null,"abstract":"<p><p>ObjectiveTo explore what factors are considered by multidisciplinary team (MDT) professionals working in cleft lip and palate services when supporting young people in their decision-making for orthognathic surgery (OS) and how professionals understand and manage ethical dilemmas that arise.DesignA qualitative design was employed in which semistructured interviews were conducted remotely with NHS staff.SettingNine participants were interviewed across four NHS cleft services in the United Kingdom.ParticipantsThe sample consisted of three Speech and Language Therapists, three Orthodontists, and three Surgeons involved in decision-making for OS.ResultsReflexive Thematic Analysis revealed three key themes and seven sub-themes:\"navigating the decision-making process,\" \"Team-Centric,\" and 'Health Inequalities impacting on access to cleft services. Within these themes, professionals reflected on positions of power, the MDT environment, valued contribution of different professionals, external influences impacting on shared decision-making (SDM) and barriers to accessing care.ConclusionsThe findings highlight the complex nature of balancing patient autonomy and beneficence during the decision-making process for OS while bringing awareness to factors that may pose a barrier to decision-making such as the presence of health inequalities, power dynamics and conditions of the MDT environment. The importance of optimizing the SDM environment and creating opportunities for liaison, particularly earlier in the pathway, are discussed. It is recommended that future research explores the impact of health inequalities on access to cleft care further, recognizing those that are currently disadvantaged in their treatment journey.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"3900-3910"},"PeriodicalIF":1.3,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646419/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147730602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review. 唇腭裂是亚洲人常见的与porcn相关的局灶性皮肤发育不全:三个新病例报告和文献回顾。
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-11-01 Epub Date: 2026-03-16 DOI: 10.1177/10556656261431892
Joshua C K Chan, Phoebe K W Wu, Wing Chung Yiu, Stephanie K L Ho, Ho-Ming Luk
{"title":"Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.","authors":"Joshua C K Chan, Phoebe K W Wu, Wing Chung Yiu, Stephanie K L Ho, Ho-Ming Luk","doi":"10.1177/10556656261431892","DOIUrl":"10.1177/10556656261431892","url":null,"abstract":"<p><p>Focal dermal hypoplasia is an X-linked dominant genetic disorder predominantly affecting females, caused by loss-of-function variants in the <i>PORCN</i> gene, characterized by ectodermal, skeletal, craniofacial and ocular structural abnormalities. We report three cases with <i>de novo</i> novel variants, and performed a comprehensive review of the clinical features of this disorder focusing on Asian patients, and identified significant differences compared with previous literature focusing on Caucasian patients. Cleft lip and palate is a frequently reported feature in Asian patients, but not in Caucasians. This improves the understanding of this rare disease in particular ethnic-specific differences.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"4000-4007"},"PeriodicalIF":1.3,"publicationDate":"2026-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147464167","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书