hemifacial microsomia

半面微缩肌
  • 文章类型: Journal Article
    目的:本范围综述探讨了半面微瘤(HFM)患者进行性面部不对称(FA)中下颌骨的各种参数,强调它与性的关系,人口,和年龄组。
    方法:该评论基于对PubMed的全面搜索,EBSCOhost,和WebofScience。符合纳入标准的合格研究构成选择研究的一部分。使用混合方法评估工具的筛选和定量标准对纳入的研究进行评估。作者利用预先设定的数据提取表格从纳入的研究中获取信息。
    结果:11项研究符合纳入标准。使用的下颌骨参数是角度测量,下巴点,Ramal高度,身体长度,和总长度。在纳入的研究中,HFM患者的FA与性别之间没有关系。大多数研究由欧洲参与者组成(55%),其次是美国人(36%)和中国人(9%)。所选研究中包括的年龄组被归类为牙列年龄(18%),儿童早至中期(18%),和不同的年龄(64%)。本综述中提供的数据仅与HFM患者患侧记录的异常特征有关。本审查中没有记录伴随的对照数据。
    结论:对纳入研究的评估显示,HFM的FA不随年龄增加。因此,FA在HFM患者中是非进行性的。该信息与HFM患者的诊断和管理有关。需要更多关于HFM患者FA进展的报告。
    OBJECTIVE: This scoping review explores various parameters of the mandible in progressive facial asymmetry (FA) in hemifacial microsomia (HFM) patients, highlighting its relationship with sex, population, and age group.
    METHODS: The review was based on a comprehensive search of PubMed, EBSCOhost, and Web of Science. Eligible studies that met the inclusion criteria form part of the selection study. The included studies were appraised using screening and quantitative criteria of mixed-method appraisal tools. The authors utilised a pre-set data extraction form to obtain information from the included studies.
    RESULTS: Eleven studies met the inclusion criteria. The mandible parameters used were angular measurements, chin point, ramal height, body length, and total length. There was no relationship between FA and sex in HFM patients in the included studies. Most of the studies were comprised of European participants (55%), followed by Americans (36%) and Chinese (9%). The age groups included in the selected studies were categorised as dentition age (18%), early-to-middle childhood (18%), and varied ages (64%). The data presented in this review only pertains to the anomalous characteristics recorded on the affected side in HFM patients. No concomitant control data was recorded in this review.
    CONCLUSIONS: An assessment of the included studies revealed that FA does not increase with age in HFM. Hence, FA is non-progressive in HFM patients. This information is relevant to diagnosing and managing HFM patients. More reports are needed on the progression of FA in HFM patients.
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  • 文章类型: Journal Article
    背景:半面微儿的特征是下颌骨和颞下颌关节发育不全,涉及颅面区域的各种异常。因为它随着病人的成长而逐渐恶化,有必要了解半面微体患者面部骨生长和面部畸形的特点,以确定合适的治疗时机和治疗方法。
    方法:对半面微缩肌进行适当的分类有助于准确诊断,治疗方法的选择,和预后预测。因此,在这篇文章中,我们回顾了以前发表的半面微体分类,并概述了面部骨骼的生长以及与半面微体相关的面部畸形的特征。OMENS系统是最全面的分类方法,基于半面微体畸形的特点,但它需要改进,包括颌骨/中面异常和神经受累。在半面微儿中,受影响方面的增长正在进展,但程度低于未受影响的一方。因此,成长中的患者应根据畸形的严重程度有选择地进行手术干预。
    结论:了解生长模式对于制定适当的治疗方案以纠正成年患者的不对称性和减少生长患者的继发性异常非常重要。
    BACKGROUND: Hemifacial microsomia is characterized by the hypoplasia of the mandible and temporomandibular joint, involving a variety of abnormalities of the craniofacial area. Since it gradually worsens as patients grow, it is necessary to understand the characteristics of facial bone growth and facial deformity in hemifacial microsomia patients in order to determine appropriate treatment timing and treatment methods.
    METHODS: Appropriate classification of hemifacial microsomia would facilitate accurate diagnosis, selection of treatment methods, and prognosis prediction. Therefore, in this article, we review previously published hemifacial microsomia classification and provide an overview of the growth of the facial skeleton and the characteristics of hemifacial microsomia-related facial deformities. The OMENS system is the most comprehensive classification method based on the characteristics of hemifacial microsomia deformity, but it needs to be improved to include malar/midface abnormalities and nerve involvement. In hemifacial microsomia, growth is progressing on the affected side, but to a lesser degree than the unaffected side. Therefore, surgical intervention in growing patients should be performed selectively according to the severity of deformity.
    CONCLUSIONS: Understanding growth patterns is important to develop appropriate treatment protocols for correcting asymmetry in adult patients and to minimize secondary anomalies in growing patients.
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  • 文章类型: Review
    背景:报告一例4岁的Goldenhar综合征患者。
    方法:作者提供了一个罕见的病例报告,涉及一名4岁男孩,患有多种畸形。全面检查显示,该患者主要患有角膜缘皮样。他还患有双侧小耳畸形和耳道畸形。头颅CT扫描和脊柱X线显示颌面畸形和脊柱侧凸。全外显子组测序揭示了与小虫相关的潜在基因变异。尽管某些情况使我们无法对患者进行后续治疗,我们提供了用于这种情况的诊断方法的详细说明.
    结论:Goldenhar综合征是一种先天性疾病,主要表现为散发病例。它的诊断和管理通常需要多个学科的参与,包括耳鼻喉科和颅面外科.该综合征包括各种颅面特征,这可以促进早期诊断并指导后续的治疗干预。
    BACKGROUND: To report a case of a 4-year-old patient with Goldenhar syndrome.
    METHODS: The author presents a rare case report involving a 4-year-old boy with multiple malformations. A comprehensive examination showed that the patient primarily had a limbal dermoid. He also has bilateral microtia and ear canal deformities. The skull CT scan and spine X-ray showed Maxillofacial Abnormalities and scoliosis. Whole Exome Sequencing revealed potential gene variations related to microtia. Although certain circumstances prevented us from initiating follow-up treatment for the patient, we have provided a detailed account of the diagnostic methodologies used for this condition.
    CONCLUSIONS: Goldenhar syndrome is a congenital condition, predominantly presenting as sporadic cases. Its diagnosis and management typically necessitate the involvement of multiple disciplines, including otolaryngology and craniofacial surgery. The syndrome encompasses a variety of craniofacial features, which can facilitate early diagnosis and guide subsequent therapeutic interventions.
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  • 文章类型: Journal Article
    该研究旨在总结有关使用骨科功能器械(OFA)管理单侧颅面微缩肌(UCM)的最新知识。审查的资格标准是(1)评估OFA作为独立治疗的使用,以及(2)在MDO期间或之后联合使用OFA。PICO(人口,干预,比较和结果)格式制定了具有定义的纳入和排除标准的临床问题。没有关于语言和出版年份的限制。信息来源:Medline的文献检索,Scopus,Embase,Cochrane中央控制试验登记册,WebofScience数据库无限制,截止2022年9月30日。评估偏倚风险。根据Cochrane和PRISMA指南,两名独立作者进行了数据提取。根据牛津循证医学数据库评估纳入文章的证据水平。由于研究的异质性和统计汇集的数据不足,荟萃分析不可行。因此,结果进行了叙述合成。共检索到437篇文献。其中,9人符合纳入标准:5人评估OFA,4人在MDO期间或之后评估OFA。有限的证据表明,独立治疗和OFA联合治疗在短期内有利于治疗轻度至中度UCM相关的牙面畸形。没有研究评估护理负担。在UCM的管理中,没有足够的证据支持OFA作为独立治疗或与MDO联合治疗的疗效.此外,缺乏有关治疗方案以及对髁突和TMJ的影响的证据。该研究在Prospero数据库CRD42020204969注册。
    The study aimed to summarize current knowledge regarding the use of orthopaedic functional appliances (OFA) in managing unilateral craniofacial microsomia (UCM). The eligibility criteria for the review were (1) assessing use of OFA as a stand-alone treatment and (2) using OFA in combination during or after MDO. The PICO (population, intervention, comparison and outcome) format formulated clinical questions with defined inclusion and exclusion criteria. No limitations concerning language and publication year were applied. Information sources: A literature search of Medline, Scopus, Embase, Cochrane Central Register of Controlled Trials, Web of Science databases without restrictions up to 30 September 2022. The risk of bias was assessed. According to Cochrane and PRISMA guidelines, two independent authors conducted data extraction. The level of evidence for included articles was evaluated based on the Oxford evidence-based medicine database. Due to the heterogeneity of studies and insufficient data for statistical pooling, meta-analysis was not feasible. Therefore, the results were synthesized narratively. A total of 437 articles were retrieved. Of these, nine met inclusion criteria: five assessing OFA and four assessing OFA during or after MDO. There is limited evidence to suggest that stand-alone and combination treatment with OFA is beneficial for treating mild-to-moderate UCM-related dentofacial deformities in short term. No studies assessed the burden of care. In the management of UCM, there is insufficient evidence supporting the efficacy of OFA as a stand-alone treatment or when combined with MDO. Additionally, there is a lack of evidence regarding treatment protocols and the effect on the condyles and the TMJ. The study was registered at Prospero database number CRD42020204969.
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  • 文章类型: Systematic Review
    由于半面微体(HFM)引起的发育不良不对称通常是颅颌面诊所中最困难的重建。尽管自体移植物通常用于颞下颌关节重建(TMJR),TMJR假体的使用尚未得到很好的证实。这次审查的目的是确定,收集和分析HFM患者使用扩展TMJR(eTMJR)假体,描述临床特征,外科手术和术后并发症。根据PRISMA指南对所有主要数据库进行在线搜索。包括所有使用eTMJR假体治疗的HFM患者的研究。描述性统计用于数据分析。共19项研究,包括08个案例研究,06个病例系列和05个回顾性队列研究,符合纳入标准,共报告了来自18个国家的42名HFM患者,主要来自美国(05;26%)。42例中有15例(约36%)为男性。所有研究中患者的平均±SD(范围)年龄为19.79±5.81(9-36)岁。患者随访的平均值±SD(范围)为41.30±35.50(6-136)个月。共有5例(10.6%)患者植入双侧eTMJR假体。Pruzansky分类在18项(~89.5%)研究中使用,OMENS分类在01(~5%)研究中,而一项研究中没有分类报告。只有01(7.1%)研究记录了所用假体的eTMJR分类。在有或没有自体组织衰竭史的成长患者中,TMJR假体可以提供可行的替代方案。有必要进行大型队列的随机研究来验证这些初步结果。
    Hypoplastic asymmetry due to hemifacial microsomia (HFM) often represents the most difficult reconstruction in the craniomaxillofacial clinic. Although autogenous grafts are generally used for temporomandibular joint reconstruction (TMJR), the use of TMJR prostheses is not well established. The aim of this review was to identify, collect and analyse the use of extended TMJR (eTMJR) prostheses in patients with HFM, describing clinical features, surgical procedures and postoperative complications. Online searches of all major databases were performed according to PRISMA guidelines. All studies with HFM patients treated with the eTMJR prostheses were included. Descriptive statistics were used for data analysis. A total of 19 studies, including 08 case studies, 06 case series and 05 retrospective cohort studies, met the inclusion criteria, where a total of 42 HFM patients were reported from 18 countries, mostly from the United States (05; 26%). Fifteen of the 42 cases (~36%) were male. The mean ± SD (range) age of patients in all studies was 19.79 ± 5.81 (9-36) years. The mean ± SD (range) of patient follow-up was 41.30 ± 35.50 (6-136) months. A total of 5 (10.6%) patients were implanted with bilateral eTMJR prostheses. The Pruzansky classification was used in 18 (~89.5%) studies, OMENS classification in 01 (~5%) study, whereas no classification was reported in one study. Only 01 (7.1%) study had documented the eTMJR classification for the prosthesis used. In growing patients with or without a history of failed autogenous tissues, TMJR prostheses may provide a viable alternative. Randomized studies with large cohorts are warranted to validate these preliminary results.
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  • 文章类型: Systematic Review
    目的:系统回顾关于半面微缩肌(HFM)治疗方案的文献,在有生长潜力的年轻患者中,对不同的牙面治疗方法进行分类和比较。
    方法:对数据库的独立审查(Scopus,Embase,奥维德,Cochrane图书馆和PubMed)遵循系统评价和荟萃分析(PRISMA)的首选报告项目,由四名评估人员进行。本研究的方案已在国际前瞻性系统评价登记册(PROSPERO)中注册,在编号CRD42021293076下。
    结果:在1970-2021年之间,根据选择标准,共发表了1137篇文章,其中27篇被纳入本研究:一项随机多中心试验,两项病例对照研究,三个病例系列和21个病例报告。
    结论:最常见的矫形治疗提供对患侧上颌突的垂直刺激。正畸方法主要用于咬合平面的垂直矫正和稳定。其他治疗选择包括正颌手术,成骨牵引,颞下颌重建和移植。建议使用同质儿科组进行前瞻性临床随机对照研究,并进行长期随访,建立推荐的基于证据的方法来治疗每组半面微缩症状。
    OBJECTIVE: To systematically review literature on therapeutic options for treating hemifacial microsomia (HFM), in young patients with growth potential, classifying and comparing the different dentofacial treatment methods.
    METHODS: An independent review of databases (Scopus, Embase, Ovid, Cochrane Library and PubMed) following the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA), conducted by four evaluators. The protocol of this study was registered in International prospective register of systematic reviews (PROSPERO), under the number CRD42021293076.
    RESULTS: Between 1970-2021, a total number of 1137 articles were published of which 27 were included in this study according to the selection criteria: one randomized multicentric trial, two case-control studies, three case series and 21 case reports.
    CONCLUSIONS: The most common orthopedic treatments provide vertical stimulation of the maxillary process in the affected side. Orthodontic approaches are mainly applied for vertical correction and stabilization of the occlusal plane. Other treatment options include orthognathic surgery, osteogenic distraction, temporomandibular reconstruction and grafting. It is recommended that prospective clinical randomized controlled studies be conducted using homogeneous pediatric groups with long-term follow-up, to establish recommended evidence-based methods for treating each set of hemifacial microsomia symptoms.
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  • 文章类型: Review
    目的:修复Tessier对6裂的罕见裂隙的分类中留下的灰色区域,并对6裂的解剖结构进行更全面的描述。
    方法:用于研究的材料是一系列26例评估的裂隙6和44例患者的临床病例,这些病例从文献综述中发现,有足够的数据是有用的。作者对这70例病例进行了盘问。
    方法:作者是在大学中心的高病例负荷部门工作的高级颅面外科医生,在那里记录患者并接受初级和次级治疗和随访。
    方法:从作者\'部门治疗的一系列颅面畸形中选择患者作为罕见的裂痕。
    结果:我们将裂隙6的全谱描述为一种自主实体,可以以三种亚型出现:6a是最接近的,可能与裂隙8相关。6b亚型位于the弓的内侧,通常与骨骼和牙齿附件相关(通常称为“上颌重复”)。6C亚型朝向螺旋脚和耳道之间的外耳。
    结论:Tessier的观点是TreacherCollins综合征与裂隙6、7和8相关,从现代遗传学的角度来看已不再可持续。文献中大多数裂隙6被误诊。
    To fix a gray zone left in Tessier\'s classification of rare clefts with cleft 6 and to give a more comprehensive description of cleft 6 anatomy.
    The material used for the research was a series of 26 clinical cases of patients with assessed cleft 6 and 44 cases found out of a literature review with enough data to be useful. The 70 cases were cross-examined by the authors.
    The authors are senior craniofacial surgeons working in high-case load department from university centers where the patients are documented and receive primary as well as secondary treatment and follow-up.
    The patients were selected out of the series of craniofacial deformities taken care of by the authors\' department as rare clefts.
    We describe the full spectrum of cleft 6 as an autonomous entity that could present itself in three subtypes: 6a is the most proximal and could be associated with cleft 8. The subtype 6b is medial toward the zygomatic arch and frequently associated with a bone and teeth appendage (frequently described as a \"maxillary duplication\"). The subtype 6C goes toward the external ear between the helix crus and the auditory meatus.
    The Tessier\'s opinion is that Treacher Collins syndrome was the association of clefts 6, 7, and 8 and is no longer sustainable in the light of modern genetics. Most of the cleft 6 are misdiagnosed in the literature.
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  • 文章类型: Journal Article
    The authors present findings and techniques to address hemipalatal discrepancy in patients with Tessier 7 cleft and associated cleft palate during cleft palatoplasty.
    The authors report 2 cases of pediatric patients with Tessier 7 facial clefts and associated cleft palate. One patient presents on the broader oculo-auriculo-vertebral spectrum and the other is has isolated Tessier cleft 7. Additionally, a PubMed search was performed using the MeSH terms \"tessier 7,\" \"cleft palate\", \"macrostomia,\" \"tessier 7 AND cleft palate,\" \"macrostomia AND cleft palate,\" AND \"hemipalatal discrepancy.\" All relevant literature was identified and underwent full review for qualitative analysis.
    Two patients met criteria for inclusion in this article. The surgical techniques utilized to mitigate the hemipalatal length discrepancy are detailed, and intraoperative photographs are provided. The results of the literature review are also presented. Tessier 7 craniofacial cleft and palatal clefts, when occurring in combination, is noted to result in discrepant hemipalatal length with short maxillary palate length on the affected side as well hypoplasia of the associated speech musculature. The postoperative palatal length after palatoplasty in both patients was longer than the preoperative hypoplastic palatal length.
    When occurring in combination, Tessier 7 craniofacial cleft and concomitant palatal cleft results in discrepant hemipalatal length, and deficiency of the bony maxillary palatal shelves, and associated speech musculature and soft tissues. The techniques described in this article may assist in maximizing postoperative palatal length.
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  • 文章类型: Case Reports
    BACKGROUND: Hemifacial microsomia (HFM) is the second most common craniofacial congenital anomaly following cleft lip and palate. Because of the various phenotypic spectra and the severity of the deformity, a wide range of treatment approaches have been proposed. Recently, the surgery-first approach (SFA) was introduced to treat mild to moderate HFM, and it yielded a balanced facial appearance. The SFA not only promotes rapid improvement in facial aesthetics but also considerably reduces the overall treatment time.
    METHODS: A female patient, aged 25 years old, sought orthodontic treatment with the chief complaint of dental and facial asymmetry. After a comprehensive physical examination and imaging analysis were performed, the patient was diagnosed with mild HFM that was primarily attributed to unilateral abnormal development of the maxilla-mandibular. The SFA was carried out to correct the skeletal deformity. The palatal suture was used as the midline of the maxilla in the surgical plan to center the maxilla, and the chin was also properly positioned to obtain a relatively symmetrical facial appearance. Four weeks after the surgery, the patient was referred for postsurgical orthodontics to decompensate the dentition and stabilize the occlusion. After 20 mo of treatment, all orthodontic appliances were removed. The posttreatment photographs of the patient and her smile confirmed good aesthetic and occlusal results.
    CONCLUSIONS: Mild HFM can be corrected by SFA, which not only promotes rapid improvement in facial aesthetics but also considerably reduces the overall treatment time.
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    文章类型: Journal Article
    Hemifacial microsomia (HFM) is the 2nd most common craniofacial birth defect after cleft lip and palate. It is said to arise from the 1st & 2nd intrauterine branchial arches. HFM is believed by many experts to be congenital but not inherited as most patients afflicted have no previous family history. It also known as craniofacial microstomia with cranial involvement. The real cause is unknown but largely blamed on hemorrhage of the stapaedial artery. The phenotypic expression is variable from mild to severe involving many structures such as bone, nerve, muscular tissues and soft tissue. Facial structures commonly affected include the ears, the mouth and the mandible. Mostly unilateral but bilateral have been reported. However, not much is known about this condition in sub-Saharan Africa. Multidisciplinary team management is the general consensus for optimal care. Awareness in sub-Saharan Africa of this disorder is still evolving. This review identifies various classifications, diagnoses, investigations, treatment and timelines for management of HFM. The aim of the current review was to discuss the diverse controversies, classification, diagnosis and treatment of HFM so as to increase the understanding of this condition.
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