Cleft Palate-Craniofacial Journal最新文献

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Comparison of Human Costal-Derived Chondrocyte Donor Sites and Microtia-Derived Chondrocytes for Auricular Tissue Engineering. 耳廓组织工程中肋源性软骨细胞供体与微源性软骨细胞供体的比较。
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-10-12 DOI: 10.1177/10556656261496626
Ashton Rosenbloom, Thomas Gasbeck, Lana Mamoun, Arya Sherafat, Nikhil Prabhakar, Michelle Toledano, Mary Ziegler, Alan Widgerow, Miles J Pfaff
{"title":"Comparison of Human Costal-Derived Chondrocyte Donor Sites and Microtia-Derived Chondrocytes for Auricular Tissue Engineering.","authors":"Ashton Rosenbloom, Thomas Gasbeck, Lana Mamoun, Arya Sherafat, Nikhil Prabhakar, Michelle Toledano, Mary Ziegler, Alan Widgerow, Miles J Pfaff","doi":"10.1177/10556656261496626","DOIUrl":"https://doi.org/10.1177/10556656261496626","url":null,"abstract":"<p><p>ObjectiveTo compare microtia-derived chondrocytes (MCs) with costal cartilage-derived chondrocytes (CCs) and determine whether costal cartilage harvest location influences chondrocyte proliferative and chondrogenic potential for auricular cartilage tissue engineering.DesignExperimental laboratory study using native tissue analysis and in vitro cell culture.SettingSingle-center laboratory study.PatientsNative auricular and costal cartilage samples were collected from four paired pediatric patients undergoing autologous microtia reconstruction.Interventions: MCs and costal chondrocytes isolated from proximal/osteochondral (PCs), distal/sternal (DCs), and medial costal (CCs) regions, were expanded in normal cell culture and 3D pellet culture.Main Outcome MeasuresType II collagen, glycosaminoglycans, total collagen, proteoglycans, and Ki67 were evaluated via immunohistochemistry (IHC). Cell proliferation was measured using cell counting kit-8 (CCK8), and gene expression of chondrogenic, osteogenic, and proliferative markers was analyzed in monolayer and 3D pellet cultures.ResultsNative microtia and costal cartilage demonstrated similar type II collagen and proteoglycan content across regions. Native microtia tissue showed greater Ki67 staining than medial and proximal costal cartilage (p < 0.05 and p < 0.01, respectively), whereas glycosaminoglycan staining was greater in costal cartilage (p < 0.05). In normal cell culture, all cell types demonstrated similar proliferative activity. In 3D pellet culture, PCs had higher Ki67 staining than DCs and MCs (p < 0.01). In CC pellet cultures, Ki67 and COL2A1 expression was increased.ConclusionCostal CCs demonstrated distinct chondrogenic characteristics based on harvest site. These findings support a more targeted utilization of costal CCs for auricular cartilage tissue engineering.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656261496626"},"PeriodicalIF":1.3,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149172016","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
Disability Identity and Critical Consciousness Among People with Facial Differences. 面部差异人群的残疾认同与批判意识。
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-10-12 DOI: 10.1177/10556656261494335
Marisa A Krauter, Kathleen R Bogart
{"title":"Disability Identity and Critical Consciousness Among People with Facial Differences.","authors":"Marisa A Krauter, Kathleen R Bogart","doi":"10.1177/10556656261494335","DOIUrl":"https://doi.org/10.1177/10556656261494335","url":null,"abstract":"<p><p>People with facial differences (FD) experience unique manifestations of stigma, possibly contributing to the high variability in whether they identify as disabled. Three levels of identity specificity can describe how much people with FDs identify with: having a diagnosis, having an FD identity, and having a disability. Critical consciousness, which refers to awareness of and action against injustice, may help mitigate stigma and impact identity.ObjectiveThis study examined associations between demographics, identities, critical consciousness, and life satisfaction.Participants & DesignAdults with FDs were recruited through social media and FD organizations to complete a cross-sectional online questionnaire.Main Outcome & MeasuresThree open-ended questions, Disability Personal Identity Scale, Critical Consciousness Scale, and Satisfaction with Life Scale were completed. Qualitative content analysis described how they learned about the term FD and thoughts about identifying with having a disability. Multiple regressions described relationships between each identity and critical consciousness as well as identities with life satisfaction.ResultsParticipants (N = 60) were mostly white (81%) women (80%) with a college education (88%). All participants self-categorized as having an FD and 59% self-categorized as disabled. Themes of disability identification depended on: health and medical treatment, comparisons to \"normal\" life, impacts on social/public interactions, and the less frequent societal attitudes. Identifying with their diagnosis and higher education were associated with higher critical consciousness. Study variables were not associated with life satisfaction.ConclusionsGreater awareness of identities and utilizing the term 'FD' in healthcare settings may help to connect more people to FD community.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656261494335"},"PeriodicalIF":1.3,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149168429","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
Patterns of Orofacial Cleft Phenotypes and Their Associated Sequelae: A 3-Year Retrospective Study at a Tertiary Referral Hospital in West Africa. 口面裂表型模式及其相关后遗症:西非一家三级转诊医院3年回顾性研究
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-10-10 DOI: 10.1177/10556656261496582
Edmond Kubi Appiah, Joseph Nimako-Boateng
{"title":"Patterns of Orofacial Cleft Phenotypes and Their Associated Sequelae: A 3-Year Retrospective Study at a Tertiary Referral Hospital in West Africa.","authors":"Edmond Kubi Appiah, Joseph Nimako-Boateng","doi":"10.1177/10556656261496582","DOIUrl":"https://doi.org/10.1177/10556656261496582","url":null,"abstract":"<p><p>ObjectiveTo determine the demographic distribution, anatomical patterns and associated complications of orofacial clefts (OFCs) at a major tertiary referral centre in Ghana.DesignA retrospective cross-sectional review of patient records.SettingThe Cleft Centre of the Oral and Maxillofacial Surgery Department, a tertiary Institution in West Africa.Patients/participantsRecords of all patients managed for OFCs between January 2017 and December 2019. After exclusions for incomplete data, 189 patients were included.InterventionsNot applicable (observational study).Main outcome measure(s)Primary outcomes were frequencies and percentages of cleft types (cleft lip with or without cleft alveolus [CL ± A], cleft lip and palate [CLP], cleft palate only [CPO]), laterality, completeness and associated complications/anomalies.ResultsOf 189 patients, 101 (53.4%) were male and 88 (46.6%) were female. The median age at presentation was 4 months. CL ± A was most common (38.6%, <i>n</i> = 73), followed by CLP (34.9%, <i>n</i> = 66) and CPO (26.5%, <i>n</i> = 50). Unilateral clefts (79.5%) and left-sided defects (60.3%) predominated. Feeding difficulties were the most frequent complication (59.1% of 93 patients with complications). Associated anomalies were present in 36 patients (19.0%).ConclusionsOFCs present a significant burden at this tertiary centre. Determining patterns of cleft phenotypes informs surgical timing and type, highlighting the need for policies to allocate resources for multidisciplinary care.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656261496582"},"PeriodicalIF":1.3,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149168881","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 Palate Surgery: Evolving Surgical Techniques and Reconstructive Principles for Oronasal Fistula and Velopharyngeal Dysfunction: A Narrative Review. 腭裂外科:发展的外科技术和重建原则口鼻瘘和腭咽功能障碍:叙述回顾。
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-10-10 DOI: 10.1177/10556656261495240
Rogelio Martínez-Wagner, Kenzo Alejandro Fukumoto-Inukai, María Bejar-Chapa, Miguel Ángel Domínguez-Varela, Javier Andrés Meza-Hernández, Sergio Heinar Rodríguez-Sosa, Luis Alejandro Rodríguez-Corpus, Cindy A Hernández-Cárdenas, Luis Eduardo Salinas-Ruiz, José Emiliano González-Flores, Christopher De Jesús-Fernández, Hernando A Vázquez-Sánchez
{"title":"Cleft Palate Surgery: Evolving Surgical Techniques and Reconstructive Principles for Oronasal Fistula and Velopharyngeal Dysfunction: A Narrative Review.","authors":"Rogelio Martínez-Wagner, Kenzo Alejandro Fukumoto-Inukai, María Bejar-Chapa, Miguel Ángel Domínguez-Varela, Javier Andrés Meza-Hernández, Sergio Heinar Rodríguez-Sosa, Luis Alejandro Rodríguez-Corpus, Cindy A Hernández-Cárdenas, Luis Eduardo Salinas-Ruiz, José Emiliano González-Flores, Christopher De Jesús-Fernández, Hernando A Vázquez-Sánchez","doi":"10.1177/10556656261495240","DOIUrl":"https://doi.org/10.1177/10556656261495240","url":null,"abstract":"<p><p>BackgroundDespite more than a century of surgical innovation, no single palatoplasty technique has demonstrated consistently superior outcomes across the spectrum of cleft palate phenotypes.ObjectiveThis review examines the historical evolution of cleft palate reconstruction and contemporary evidence relating operative techniques, technical modifications, and reconstructive adjuncts to oronasal fistula (ONF) and velopharyngeal outcomes.MethodsA narrative literature search of PubMed/MEDLINE, Scopus, the Cochrane Library, and Google Scholar (January 1990-March 2026) incorporated original clinical studies, systematic reviews, meta-analyses, and landmark reports, with evidence from primary palatoplasty, symptomatic submucous cleft palate, secondary velopharyngeal surgery, and fistula reconstruction considered according to clinical setting.ResultsAcross a heterogeneous evidence base, favorable outcomes were associated with restoration of the levator sling, tension-minimized multilayer closure, preservation of vascularity, adequate tissue recruitment, and adaptation of reconstruction to cleft morphology. The independent contribution of these principles remains uncertain because the evidence is predominantly observational and heterogeneous.ConclusionsSuccessive palatoplasty techniques therefore appear to represent different strategies for addressing shared reconstructive constraints rather than competing solutions with uniformly superior outcomes. This updated synthesis integrates established reconstructive principles with contemporary evidence on ONF, velopharyngeal outcomes, cleft morphology, and tissue deficiency to provide an outcome-oriented framework for individualized cleft palate reconstruction.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656261495240"},"PeriodicalIF":1.3,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149170576","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
Training and Practice Considerations for Providers in Craniofacial Team Care: Lived Experience Perspectives. 颅面团队护理提供者的培训和实践考虑:生活经验观点。
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-10-10 DOI: 10.1177/10556656261496622
Eric Riklin, Jessica Canallatos, Hannes Prescher, Matthew D Ford, Kate Apgar, Alexis Johns
{"title":"Training and Practice Considerations for Providers in Craniofacial Team Care: Lived Experience Perspectives.","authors":"Eric Riklin, Jessica Canallatos, Hannes Prescher, Matthew D Ford, Kate Apgar, Alexis Johns","doi":"10.1177/10556656261496622","DOIUrl":"https://doi.org/10.1177/10556656261496622","url":null,"abstract":"<p><p>BackgroundThe growing number of providers joining craniofacial teams with both professional and lived experience raises the need for thoughtful approaches to training and practice.SolutionAddress benefits and challenges of lived experience in training and practice.What we did that is newWe offer considerations for professionals with lived experience and their colleagues during training and in team care, including addressing hierarchies and tokenism with a focus on privacy, consent, disclosure, and open communication.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656261496622"},"PeriodicalIF":1.3,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149149391","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
Effects of Rapid Maxillary Expansion on Facial Soft Tissues in Children With Unilateral Cleft Lip and Palate Using 3-Dimensional Stereophotogrammetry. 应用三维立体摄影测量法观察单侧唇腭裂儿童上颌快速扩张对面部软组织的影响
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-10-10 DOI: 10.1177/10556656261497167
Maen Zreaqat, Rozita Hassan, Mohanad Hamsho, Qusai Tarawneh
{"title":"Effects of Rapid Maxillary Expansion on Facial Soft Tissues in Children With Unilateral Cleft Lip and Palate Using 3-Dimensional Stereophotogrammetry.","authors":"Maen Zreaqat, Rozita Hassan, Mohanad Hamsho, Qusai Tarawneh","doi":"10.1177/10556656261497167","DOIUrl":"https://doi.org/10.1177/10556656261497167","url":null,"abstract":"<p><p>ObjectiveTo determine the effects of rapid maxillary expansion (RME) on facial soft-tissue dimensions in children with unilateral cleft lip and palate (UCLP) using 3-dimensional stereophotogrammetry.DesignA prospective case series longitudinal study.SettingOrthodontic Department, School of Dental Sciences.ParticipantsThirty-four children with UCLP aged 8 to 10 years presenting with maxillary transverse constriction and requiring RME therapy.InterventionRME followed by a 6-month retention phase.Main outcomeChanges in facial soft-tissue dimensions after RME using 3-dimensional digital stereophotogrammetry (3dMDface™).ResultsAt the level of the eyes, changes in the soft-tissue canthal parameters were not statistically significant (<i>P</i> > .05). At the nasal level, the alar base width and alar base root width increased by 3.22 mm (<i>P</i> = .033) and 3.03 mm (<i>P</i> = .028), respectively. No significant differences were observed in the magnitude of change between the cleft and noncleft sides (<i>P</i> > .05). Intercanine and intermolar widths increased by 5.01 mm and 5.17 mm, respectively (both <i>P</i> < .001). No significant correlations were observed between the magnitude of intercanine or intermolar expansion and changes in alar base width or alar base root width (<i>P</i> > .05). The remaining soft-tissue variables showed no significant changes (<i>P</i> > .05).ConclusionTreatment with RME was associated with significant changes in the nasolabial soft tissues in children with UCLP while having minimal effects on other facial soft-tissue structures. Therapeutic long-term effects remain uncertain, and their potential impact on facial aesthetics should be considered before initiating treatment.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656261497167"},"PeriodicalIF":1.3,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149170362","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
A Qualitative Exploration of Barriers and Facilitators to Changing Provider's Current Evaluation and Treatment Decision-Making for Velopharyngeal Insufficiency. 质性探讨改变提供者目前对腭咽功能不全的评估和治疗决策的障碍和促进因素。
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-10-09 DOI: 10.1177/10556656261496717
Thomas J Sitzman, Erica M Weidler
{"title":"A Qualitative Exploration of Barriers and Facilitators to Changing Provider's Current Evaluation and Treatment Decision-Making for Velopharyngeal Insufficiency.","authors":"Thomas J Sitzman, Erica M Weidler","doi":"10.1177/10556656261496717","DOIUrl":"https://doi.org/10.1177/10556656261496717","url":null,"abstract":"<p><p>ObjectiveTo identify barriers and facilitators to changing provider's current approaches to evaluation and treatment decision-making for velopharyngeal insufficiency (VPI).DesignCross-sectional qualitative study.SettingMedium and large multidisciplinary cleft teams in the USA and Canada engaged in clinical research.ParticipantsTwenty-eight surgeons and 16 speech-language pathologists from 12 cleft teams.InterventionsSemi-structured interviews were conducted exploring perceived barriers and facilitators to changing VPI evaluation and treatment decision-making. Interviews were analyzed using a thematic approach guided by the Consolidated Framework for Implementation Research.ResultsProviders indicated that adoption of new approaches to VPI evaluation and decision-making would require evidence demonstrating improved speech outcomes or reduced risk of obstructive sleep apnea. Characteristics of persuasive evidence included prospective study design, comparable patient groups, standardized speech evaluations, and long-term follow-up. Providers favored applying new approaches to complex cases or defined subgroups, rather than broad adoption. Providers raised concerns about additional preoperative testing, perceiving it could increase treatment burden. When reflecting on prior changes in care delivery, providers indicated they started by discussing the potential change informally with team members to share information, gather input, and build consensus; in larger teams, discussions also occurred in formal meetings or through administrative hierarchies. Implementation decisions were consensus-based, although the pace of implementation varied among providers.ConclusionsProviders have processes for implementing changes in their VPI evaluation and treatment decision-making, and criteria by which they make the decision to implement. These findings can inform the design of implementation strategies to accelerate clinical uptake of research findings.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656261496717"},"PeriodicalIF":1.3,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149138280","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
Histological and Biomechanical Considerations of Donor Costal Cartilage Allografts for Total Ear Reconstruction. 同种异体肋软骨移植用于全耳重建的组织学和生物力学研究。
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-10-09 DOI: 10.1177/10556656261496018
Arya A Sherafat, Lilian Doan, Ashton Rosenbloom, Ryan P Donahue, Shingirirai Michael Chaokma, Kyriacos A Athanasiou, Mary Ziegler, Alan Widgerow, Rahim Esfandyarpour, Miles J Pfaff
{"title":"Histological and Biomechanical Considerations of Donor Costal Cartilage Allografts for Total Ear Reconstruction.","authors":"Arya A Sherafat, Lilian Doan, Ashton Rosenbloom, Ryan P Donahue, Shingirirai Michael Chaokma, Kyriacos A Athanasiou, Mary Ziegler, Alan Widgerow, Rahim Esfandyarpour, Miles J Pfaff","doi":"10.1177/10556656261496018","DOIUrl":"https://doi.org/10.1177/10556656261496018","url":null,"abstract":"<p><p>ObjectiveDonor costal cartilage (DCC) allografts for microtia reconstruction have shown promising clinical results, but characterization of the allografts' intrinsic properties has yet to be performed.DesignHistologically, DCC allografts were compared to autologous costal cartilage (ACC). Biomechanical properties of eight DCC were compared with normative literature values.SettingUniversity laboratory.Patients, ParticipantsAdolescent and teenage patients undergoing microtia/anotia reconstruction.Main Outcome MeasuresHistological comparisons between DCC and ACC were performed using Safranin O, Alcian Blue, Masson's Trichrome, and Collagen II-specific staining. Biomechanical evaluation of DCC yielded Young's modulus, ultimate tensile strength, and ultimate compressive strength.ResultsHistologic analysis demonstrated preservation of most collagen content, with a notable reduction in the glycosaminoglycan content of the extracellular matrix in DCC. DCC demonstrated biomechanical performance that overlaps with ACC based on reported literature values.ConclusionsThe histologic integrity and biomechanical characteristics reveal DCC may have structural integrity that resembles ACC.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656261496018"},"PeriodicalIF":1.3,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149139007","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
Witteveen-Kolk Syndrome: Two Patients With Craniofacial Features and Novel SIN3A Variants. Witteveen-Kolk综合征:两例颅面特征和新的SIN3A变异。
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-10-09 DOI: 10.1177/10556656261494180
Bennett Cleff, Ellen Wang, Jessica Bolen, Anthony Basta, Tien Do, Paul R Hillman, Jacqueline T Hecht, Matthew Greives, Emily Hansen-Kiss
{"title":"Witteveen-Kolk Syndrome: Two Patients With Craniofacial Features and Novel <i>SIN3A</i> Variants.","authors":"Bennett Cleff, Ellen Wang, Jessica Bolen, Anthony Basta, Tien Do, Paul R Hillman, Jacqueline T Hecht, Matthew Greives, Emily Hansen-Kiss","doi":"10.1177/10556656261494180","DOIUrl":"https://doi.org/10.1177/10556656261494180","url":null,"abstract":"<p><p>Witteveen-Kolk syndrome (WKS) is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic <i>SIN3A</i> variants, with diagnosis complicated by variable physical findings. We describe two unrelated patients with <i>de novo SIN3A</i> variants identified through trio whole exome sequencing, expanding the phenotype of WKS. Patient 1, a 16-year-old female, presented with bilateral cleft lip and palate, retained primary teeth, and horseshoe kidney: findings not previously reported in WKS. Patient 2, a 5-year-old male, exhibited macrocephaly and obesity, also novel to the WKS phenotype. These findings broaden the recognized clinical spectrum of WKS, supporting earlier and accurate diagnosis, and improved genetic counseling.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656261494180"},"PeriodicalIF":1.3,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149139004","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
Retrospective Evaluation of Alveolar and Nasolabial Changes After Nasoalveolar Molding in Patients With Bilateral Cleft Lip and Palate. 双侧唇腭裂患者鼻牙槽成型后牙槽及鼻唇变化的回顾性评价。
IF 1.3 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2026-10-09 DOI: 10.1177/10556656261495873
Helin Nisa Biçici Demir, Derya Germeç Çakan
{"title":"Retrospective Evaluation of Alveolar and Nasolabial Changes After Nasoalveolar Molding in Patients With Bilateral Cleft Lip and Palate.","authors":"Helin Nisa Biçici Demir, Derya Germeç Çakan","doi":"10.1177/10556656261495873","DOIUrl":"https://doi.org/10.1177/10556656261495873","url":null,"abstract":"<p><p>ObjectiveTo evaluate the alveolar and nasolabial changes in infants with complete bilateral cleft lip and palate (CBCLP) with deviated and nondeviated premaxilla following nasoalveolar molding (NAM) and to compare the nasolabial changes induced by NAM with growth changes in healthy infants.DesignRetrospective case-control study.SettingTertiary care was provided at the Department of Orthodontics, Faculty of Dentistry, Yeditepe University.Patients, ParticipantsSeventeen infants with CBCLP and 17 healthy controls were included. The subgroups were created regarding premaxillary deviation.InterventionsNAM treatment.Main Outcome MeasuresLinear and angular measurements were made on 3D images obtained from intraoral plaster models and stereophotogrammetric facial images.ResultsIn patients with CBCLP, alveolar cleft widths and premaxillary protrusion were decreased (<i>P</i> < .001). In the premaxillary deviation subgroup, the deviation was reduced (<i>P</i> < .001). The philtrum median height was increased (<i>P</i> < .01) but remained shorter than normal (<i>P</i> < .001). The increase in columellar length in the CBCLP group was greater than that of the control group, exceeding the amount expected from natural growth (<i>P</i> < .05). The nasal tip protrusion was increased in the CBCLP group (<i>P</i> < .05).ConclusionFollowing the NAM, cleft widths and lip gaps were reduced, premaxilla was retracted, philtrum median height was increased, and the nasolabial profile was improved in patients with CBCLP. NAM provided alveolar and nasolabial symmetry in the CBCLP group, according to the evaluation of the subgroups. Although the initial nasolabial cleft deformities in patients with CBCLP were improved with NAM, post-NAM nasolabial morphology was still different from that of healthy infants.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656261495873"},"PeriodicalIF":1.3,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149138974","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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