Craniofacial morphology

颅面形态学
  • 文章类型: Journal Article
    简介:过多的生物分子调节骨phy生长板中的软骨形成。这些分子的数量和功能的破坏可在临床上表现为各种病因的身高异常。传统上,生长激素/胰岛素样生长因子1(IGF1)轴代表最终达到身材的病因学中心.值得注意的是,对主导颅面复合体生长的分子事件及其与躯体身材的相关性知之甚少。目标:鉴于相关数据的匮乏,这篇综述讨论了关于侧位头颅造影作为儿童遗传矮小的潜在临床指标的潜在应用的现有信息。材料和方法:在PubMed电子数据库中进行了文献检索,使用关键词:头颅测量分析和矮小身材;头颅测量分析和软骨发育不全;头颅测量分析和骨骼异常;头颅和SHOX;头颅和CNP;头颅和ACAN;头颅和CNVs;头颅和CNVR3;头颅和IHometr*;和Fochnsyndes结果:在遗传综合征导致身材矮小的个体中,颅面复合体的线性生长受到限制,遵循躯体身材矮小的模式,无论其病因如何。角度和线性头颅测量值与普通正常人的测量值不同,并且暗示了颌骨的后部放置和面部的垂直生长方式。结论:现有文献中有关遗传综合征矮小儿童头颅测量的大部分提供了定性数据。此外,患有导致身材矮小的特定罕见遗传条件的个体的头颅测量数据应该是未来研究的重点。需要这些定量数据来潜在地建立基于颅面表型的遗传测试的参考截止值。
    Introduction: A plethora of biological molecules regulate chondrogenesis in the epiphyseal growth plate. Disruptions of the quantity and function of these molecules can manifest clinically as stature abnormalities of various etiologies. Traditionally, the growth hormone/insulin-like growth factor 1 (IGF1) axis represents the etiological centre of final stature attainment. Of note, little is known about the molecular events that dominate the growth of the craniofacial complex and its correlation with somatic stature. Aim: Given the paucity of relevant data, this review discusses available information regarding potential applications of lateral cephalometric radiography as a potential clinical indicator of genetic short stature in children. Materials and Methods: A literature search was conducted in the PubMed electronic database using the keywords: cephalometric analysis and short stature; cephalometric analysis and achondroplasia; cephalometric analysis and hypochondroplasia; cephalometric analysis and skeletal abnormalities; cephalometr* and SHOX; cephalometr* and CNP; cephalometr* and ACAN; cephalometr* and CNVs; cephalometr* and IHH; cephalometr* and FGFR3; cephalometr* and Noonan syndrome; cephalometr* and \"Turner syndrome\"; cephalometr* and achondroplasia. Results: In individuals with genetic syndromes causing short stature, linear growth of the craniofacial complex is confined, following the pattern of somatic short stature regardless of its aetiology. The angular and linear cephalometric measurements differ from the measurements of the average normal individuals and are suggestive of a posterior placement of the jaws and a vertical growth pattern of the face. Conclusions: The greater part of the existing literature regarding cephalometric measurements in short-statured children with genetic syndromes provides qualitative data. Furthermore, cephalometric data for individuals affected with specific rare genetic conditions causing short stature should be the focus of future studies. These quantitative data are required to potentially establish cut-off values for reference for genetic testing based on craniofacial phenotypes.
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  • 文章类型: Journal Article
    目的:颅面形态是睡眠呼吸障碍(SBD)的组成部分,尤其是阻塞性睡眠呼吸暂停(OSA),告知治疗策略。这篇综述评估了二维(2D)摄影测量在评估OSA患者中这些指标中的实用性。
    方法:遵循PRISMA指南,进行了系统审查。PubMed,Embase,系统地搜索了Lilacs数据库,以利用SBD中的2D摄影进行研究。研究结果是叙事综合的。
    结果:共纳入13项研究,涉及2,328例患者。发现颅面测量-特别是颈部参数和面部宽度-以及OSA严重程度之间存在显着相关性,即使在BMI调整后。观察到颅面形态的种族差异,摄影测量法可以有效预测白种人和亚洲人的OSA,尽管其他种族的数据有限。儿科研究表明,颅面测量可能是儿童OSA的预测因子,有一定的警告。
    结论:2D摄影测量作为一种实用且非侵入性的工具,与不同人群的OSA严重程度相关。然而,在不同种族队列中的进一步验证对于增强这些发现的普遍性至关重要.
    OBJECTIVE: Craniofacial morphology is integral to Sleep Breathing Disorders (SBD), particularly Obstructive Sleep Apnea (OSA), informing treatment strategies. This review assesses the utility of two-dimensional (2D) photogrammetry in evaluating these metrics among OSA patients.
    METHODS: Following PRISMA guidelines, a systematic review was conducted. PubMed, Embase, and Lilacs databases were systematically searched for studies utilizing 2D photography in SBD. Findings were narratively synthesized.
    RESULTS: Thirteen studies involving 2,328 patients were included. Significant correlations were found between craniofacial measurements-specifically neck parameters and facial width-and OSA severity, even after BMI adjustment. Ethnic disparities in craniofacial morphology were observed, with photogrammetry effective in predicting OSA in Caucasians and Asians, though data for other ethnicities were limited. Pediatric studies suggest the potential of craniofacial measurements as predictors of childhood OSA, with certain caveats.
    CONCLUSIONS: 2D photogrammetry emerges as a practical and non-invasive tool correlating with OSA severity across diverse populations. However, further validation in various ethnic cohorts is essential to enhance the generalizability of these findings.
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  • 文章类型: Journal Article
    目的:本研究确定了晚期位置性错头症(PP)诊断的危险因素以及对头盔治疗的影响。
    方法:我们对南加州五家医院诊断为PP的所有患者进行了10年以上的回顾性研究。
    方法:在纳入的医院诊断为PP的患者。
    方法:25,332例患者诊断为PP超过10年。
    方法:比较早期(<=6个月)和晚期(>6个月)诊断为PP的患者。
    方法:对队列进行了人口统计学评估,妊娠史,相关条件,通过直接比较和住院,逻辑回归,和相关分析。比较了推荐率和头盔订单率。
    结果:回顾的患者,4.8%(n=1216)被诊断为晚期。在多变量分析中,晚期诊断更可能是西班牙裔或黑人/非裔美国人.早期胎龄,脑积水,在晚期诊断中,VP分流更为常见。晚期诊断的患者NICU和整体住院时间更长。胎龄较早,NICU或总住院时间延长与PP诊断年龄晚相关.8.9%的患者接受头盔治疗评估。晚期诊断的患者转诊的可能性分别为2.63和1.64倍,需要头盔治疗。分别。
    结论:西班牙裔或黑人/非裔美国人患者,过早,有脑积水,或VP分流有较高的延迟PP诊断率。更短的胎龄或更长的NICU或住院时间与后期诊断相关,这增加了头盔治疗的要求。对于有风险的患者,需要额外的干预措施来常规评估并最小化发生PP的风险。
    OBJECTIVE: This study identifies risk factors for late positional plagiocephaly (PP) diagnosis and impact on helmet therapy.
    METHODS: We conducted a retrospective review of all patients diagnosed with PP over 10 years at five Southern California hospitals.
    METHODS: Patients diagnosed with PP at an included hospital.
    METHODS: 25,332 patients were diagnosed with PP over 10 years.
    METHODS: Patients diagnosed with PP early (< = 6 months) and late (>6 months) were compared.
    METHODS: Cohorts were evaluated for demographics, gestational history, associated conditions, and hospitalizations through direct comparison, logistic regression, and correlation analyses. Rates of referrals and helmet orders were compared.
    RESULTS: Of patients reviewed, 4.8% (n  =  1216) were diagnosed late. On multivariate analysis, late diagnoses were more likely Hispanic or Black/African-American. Early gestational age, hydrocephalus, and VP shunt were more frequent in late diagnoses. Patients diagnosed late had longer NICU and overall hospital stays. Earlier gestational age, longer NICU or overall hospital stay correlated with later age at PP diagnosis. 8.9% of patients were referred for helmet therapy evaluation. Patients diagnosed late were 2.63 and 1.64 times as likely to be referred and require helmet therapy, respectively.
    CONCLUSIONS: Patients who are Hispanic or Black/African-American, premature, have hydrocephalus, or VP shunt have higher rates of delayed PP diagnosis. Shorter gestational age or longer NICU or hospital stay correlates with later diagnosis, which increases helmet therapy requirements. Additional interventions are needed for at risk patients to routinely evaluate for and minimize the risk of developing PP.
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  • 文章类型: Journal Article
    目的:后颅牵张术(PCD)是一种治疗颅骨融合的外科技术,特别是在综合征患者中。该技术具有显着扩展颅骨的能力,虽然需要最小的硬脑膜夹层,与颅骨重塑相比。我们的目标是确定PCD的患者特征和手术结果。我们试图回答的两个问题是:1)PCD的平均已发表并发症发生率和最常见并发症是多少?以及2)PCD可以预期颅内容量扩大多少?
    方法:进行了PubMed数据库对PCD文章的搜索。排除重叠患者的病例报告和文章。使用其余文章进行了系统评价。
    方法:提取患者数据以确定患者总数,患有综合症的患者,综合征的类型,手术时的平均年龄,平均分心距离,颅内体积平均增加,和并发症。
    结果:分析了代表325名患者的18篇文章。68.6%的患者出现综合征。手术时的平均年龄为22.1个月。平均牵引量为24.7mm。颅内体积平均增加253.2cm3。总并发症发生率为32.2%,最常见的并发症是手术部位感染,硬件相关的并发症和伤口愈合延迟。
    结论:PCD是治疗综合征性颅骨融合的有力技术,尽管并发症发生率明显高于传统的重塑技术。未来的研究应该比较上和下截骨术对颅内体积的影响,宇宙和并发症。
    OBJECTIVE: Posterior cranial distraction (PCD) is a surgical technique to address craniosynostosis, especially in syndromic patients. The technique has the ability to significantly expand the cranium, while requiring minimal dural dissection, compared to cranial remodeling. Our goals were to determine the patient characteristics and surgical outcomes of PCD. The two questions that we sought to answer were: 1) What is the average published complication rate and the most common complications of PCD? and 2) How much intracranial volume expansion can one expect with PCD?
    METHODS: A PubMed database search of articles on PCD was performed. Case reports and articles with overlapping patients were excluded. A systematic review was performed using the remaining articles.
    METHODS: Patient data were extracted in order to determine the total number of patients, patients with a syndrome, types of syndromes, mean age at surgery, mean distraction distance, mean increase in intracranial volume, and complications.
    RESULTS: 18 articles representing 325 patients were analyzed. A syndrome was present in 68.6% of patients. The mean age at time of surgery was 22.1 months. Mean distraction amount was 24.7 mm. Mean increase in intracranial volume was 253.2 cm3. The overall complication rate was 32.2%, with the most common complications being surgical-site infection, hardware-related complications and delayed wound healing.
    CONCLUSIONS: PCD is a powerful technique in the management of syndromic craniosynostosis, although complication rates are significantly higher than traditional remodeling techniques. Future studies should compare the effects of supratorcular and infratorcular osteotomies on intracranial volume, cosmesis and complications.
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  • 文章类型: Review
    本文旨在确定在严重颅面异常的情况下如何定义和评估生活质量(QoL)。以及这些考虑因素可能对姑息新生儿护理方面患有这些疾病的新生儿的治疗产生的影响。我们的文献综述发现,没有足够的证据表明颅面异常会导致持续不良的QoL。根据这些发现,并符合目前可接受的新生儿伦理护理标准,除了罕见的病例,复苏的努力应该总是在患者孤立的颅面异常进行,正如该报告患者的管理所证明的那样。
    This article aims to determine how quality of life (QoL) is defined and assessed in cases of severe craniofacial anomalies, as well as the impact such considerations may have on the treatment of a neonate with these conditions with respect to palliative neonatal care. Our literature review found insufficient evidence to suggest that craniofacial anomalies result in consistently poor QoL. Based on these findings and in line with the current acceptable standards for the ethical care of neonates, with the exception of rare cases, resuscitative efforts should always be performed on patients with isolated craniofacial anomalies, as demonstrated in the management of this reported patient.
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  • 文章类型: Meta-Analysis
    仅left裂(CPO)是第二常见的left裂类型。裂和腭瘢痕都可能影响颅面生长。这项系统评价的目的是总结有关the手术对CPO颅面形态影响的科学证据。
    在PubMed中进行了搜索,PMC,WOS,Scopus,Embase,使用关键词:\"腭裂\"和(\"颅面形态\"或\"头颅测量分析\")不\"唇\"与纳入和排除标准,确保自信,研究组之间的直接比较。使用Arrive的放射学检查量表进行质量评估。
    在713篇潜在文章中,19人接受定性分析,17人接受荟萃分析,这证实了未手术的CPO与非裂隙个体的SNA减少。没有发现直接评估手术对颅面部形态影响的科学证据。间接观察到pal手术的负面影响:在治疗的CPO与非裂隙中,SNA的尺寸效应大于未处理的CPO与非裂隙。高度异质性来自一些非欧洲出版物。
    CPO与由裂隙和原发性手术引起的矢状上颌骨缺损有关,不考虑手术后CPO患者的裂隙严重程度。种族差异影响CPO的颅面形态。这项研究没有获得外部资助。PROSPERO数据库中的研究方案编号:CRD42021268957。
    Cleft palate only (CPO) is the second most prevalent cleft type. Both the cleft and palatal scarring may affect craniofacial growth. The aim of this systematic review was to summarize scientific evidence on effect of palatal surgery on craniofacial morphology in CPO.
    A search was conducted in PubMed, PMC, WoS, Scopus, Embase, using the keywords: \"cleft palate\" AND (\"craniofacial morphology\" OR \"cephalometric analysis\") NOT \"lip\" with inclusion and exclusion criteria ensuring confident, direct comparison between study groups. The quality assessment was performed with Arrive\'s scale for radiologic examinations.
    Of 713 potential articles, 19 were subjected to qualitative analysis and 17 to meta-analysis, which confirmed reduced SNA in unoperated CPO versus non-cleft individuals. No scientific evidence was found directly assessing the effect of surgery on craniofacial morphology. The negative effect of palatal surgery was seen indirectly: in treated CPO versus non-cleft, the size effect of SNA is bigger than in untreated CPO versus non-cleft. A high heterogeneity came from a few non-European publications.
    CPO is associated with sagittal maxillary deficiency resulting both from the cleft and from primary surgery, disregarding cleft severity in operated CPO patients. Ethnic differences influence craniofacial morphology in CPO. This research received no external funding. Study protocol number in PROSPERO database: CRD42021268957.
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  • 文章类型: Review
    侧突(PL)是一种罕见的先天性颅面畸形,管状鼻结构,长度为2-3厘米(cm),通常附着于内侧can区域。一名22个月大的男性患者被转诊到我们的诊所,其PL悬挂在右内侧can上,而在右下眼睑的内侧三分之一上有结肠缺损。体格检查显示PL长4厘米,直径1.5厘米。远端有一个盲腔,有凹痕。右侧的鼻子和鼻气道是再生障碍。手术矫正前,应进行神经放射学评估,以获得病变与相邻结构和相关异常的特征和关系。文献中描述了许多重建方案,然而,这些选项不足以获得自然轮廓和定义鼻翼折痕,尤其是。我们描述了左半糖的内侧壁的侧向皮瓣,并适应了PL的去上皮化皮肤的外侧边缘,以定义翼上折痕。
    Proboscis lateralis (PL) is a rare congenital craniofacial anomaly and it is represented by rudimentary, tube-like nasal structure measuring 2-3 centimetre (cm) length and generally attaches to medial canthal region. A 22-month-old male patient was referred to our clinic with a PL hanging from the right medial canthus and a coloboma on the medial third of the right lower eyelid. Physical examination revealed that the PL was 4 cm long and 1.5 cm in diameter. There was a blind cavity with dimple at its distal segment. The right side of the nose and the nasal airway was aplastic. Before surgical correction, neuroradiological evaluation should be performed to obtain the characteristics and relationship of the lesion with adjacent structures and associated anomalies Many reconstructive options have been described in the literature, however, these options are insufficient to obtain natural contour and define alar crease, especially. We described the laterally-based skin flap from the medial wall of the left heminose and adapted to the lateral edge of the de-epithelialized skin of PL for defining supra-alar crease.
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  • 文章类型: Journal Article
    完全的先天性arhinia是胚胎发生的罕见缺陷,导致缺乏外鼻和气道。我们报告了我们新颖的多阶段重建方法和文献综述。鼻甲基丙烯酸甲酯假体由立体光刻模型创建,用作临时假体和组织扩张器。带有炮灰的Lefort1用于中面推进和气道形成。用双侧耳壁碗软骨和肋骨骨软骨移植物重建外部框架。患者对美学感到满意,并具有安全的拔管,能够通过鼻子和气道呼吸。
    Complete congenital arhinia is a rare defect of embryogenesis leading to the absence of the external nose and airway. We report our novel multistaged reconstructive approach and literature review. Nasal methyl methacrylate prosthesis was created from a stereolithographic model for use as a temporary prosthesis and tissue expander. Lefort 1 with cannulization was utilized for midface advancement and airway formation. External framework was reconstructed with bilateral conchal bowl cartilage and rib osteocartilagenous grafts. Patient was pleased with the aesthetics and had safe decannulation with the ability to breathe through the nose and airway.
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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: Journal Article
    目的:回顾并总结颅面形态特征与颞下颌关节内错乱(ID)的关系。
    方法:在PROSPERO设计并注册了系统综述,CRD42011132731。PubMed,搜索Embase和Scopus数据库,以进行头颅测量研究,比较患有TMJID的女性患者和对照组的颅面形态。采用纽卡斯尔-渥太华量表(NOS)进行质量评价。合并头颅测量的加权平均差异,用于随后的荟萃分析。
    结果:从成立之日起至2020年8月,在1038条收集的记录中选择了14条,其中包括772例TMJID患者和423例对照。在NOS质量评估后,最终将这些记录汇总以进行设计的统计分析。与对照组相比,TMJID患者明显较小,挤压和顺时针旋转的下颌骨,S-Na显著减少,S-Go,走-我,Ar-Pog,Ar-Go,SNB,NaperpPog,增加了FH-MP,SN-MP,PP-MP,SN到Ar-Go,S-Ar-Go和ANB.
    结论:发现某些颅面形态特征与TMJID的存在密切相关,尤其是下颌骨的大小和位置。
    OBJECTIVE: To review and summarize the data on the relationship between craniofacial morphology features and internal derangement (ID) of the temporomandibular joint (TMJ).
    METHODS: A systematic review was designed and registered at PROSPERO, CRD42019132731. The PubMed, Embase and Scopus databases were searched for cephalometric studies comparing craniofacial morphology between female patients with TMJ ID and controls. The Newcastle-Ottawa Scale (NOS) was used for quality assessment. Weighted mean differences for cephalometric measurements were pooled for subsequent meta-analysis.
    RESULTS: From the establishment date to August 2020, 14 of 1038 collected records were selected, which consisted of 772 patients with TMJ ID and 423 controls. These records were eventually pooled for the designed statistical analysis after the NOS quality assessment. Compared with the controls, TMJ ID patients had obviously smaller, retruded and clockwise-rotated mandible, showing significantly decreased S-Na, S-Go, Go-Me, Ar-Pog, Ar-Go, SNB, Na perp Pog, and increased FH-MP, SN-MP, PP-MP, SN to Ar-Go, S-Ar-Go and ANB.
    CONCLUSIONS: Certain craniofacial morphology features were found strongly associated with the presence of TMJ ID, especially the size and position of the mandible.
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