micrognathia

小颌畸形
  • 文章类型: Journal Article
    产前MRI在头颈部的评估中起着至关重要的作用。本文概述了胎儿颅骨的技术考虑因素以及孤立和综合征异常,地球仪和轨道,耳朵,上颌骨,下颌骨,和脖子。
    Prenatal MRI plays an essential role in the evaluation of the head and neck. This article overviews technical considerations and both isolated and syndromic anomalies of the fetal calvarium, globes and orbits, ears, maxilla, mandible, and neck.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: English Abstract
    OBJECTIVE: To study the effect of magnetic therapy on the formation of distraction regenerate of the lower jaw in patients with lower micrognathia.
    METHODS: The study comprised 159 patients with inferior micrognathia of congenital and acquired etiology. The patients were divided into 2 groups. The main group consisted of 112 patients who received magnetic therapy: 55 patients with congenital micrognathia and 57 patients with acquired micrognathia. The control group included 47 patients who did not undergo magnetic therapy: 20 patients with congenital micrognathia and 27 patients with acquired micrognathia. Magnetic therapy was performed daily starting from day 1 or 2 after surgery. Ultrasound monitoring began on the 7th day of distraction and was carried out every 3-4 days, which made it possible to assess the dynamics of the formation of the distraction regenerate.
    RESULTS: Ultrasound examination on the 7th day of distraction revealed that in the main group the number of distraction regenerates of the normotrophic type was 36.5%, hypotrophic type 18%, hypertrophic type 54.5%. In the control group, the corresponding rates were 53%, 31% and 22%.
    CONCLUSIONS: Magnetic therapy induces osteogenesis and accelerates the maturation of the distraction regenerate. This makes it possible to accelerate the pace of distraction without reducing the quality of the regenerate.
    UNASSIGNED: Изучение влияния магнитотерапии на формирование дистракционного регенерата нижней челюсти у пациентов с нижней микрогнатией.
    UNASSIGNED: В исследование вошли 159 пациентов с нижней микрогнатией врожденной и приобретенной этиологии. Пациенты были разделены на 2 группы. Основную группу составили 112 пациентов, получавших магнитотерапию: 55 пациентов с врожденной и 57 — с приобретенной микрогнатией. Контрольную группу составили 47 пациентов, не получавшие магнитотерапию: 20 пациентов с врожденной и 27 — с приобретенной микрогнатией. Начиная с первых—вторых суток после операции пациентам ежедневно проводилась магнитотерапия. Ультразвуковой контроль начинался с 7-х суток дистракции и осуществлялся каждые 3—4 дня, что позволило оценить динамику формирования дистракционного регенерата.
    UNASSIGNED: При ультразвуковом исследовании на 7-е сутки дистракции выявлено, что в основной группе количество дистракционных регенератов нормотрофического типа составило 36,5%, гипотрофического типа — 18%, гипертрофического — 54,5%. В контрольной группе эти показатели составили 53, 31 и 22%, соответственно.
    UNASSIGNED: Магнитотерапия индуцирует остеогенез и ускоряет созревание дистракционного регенерата. Это дает возможность ускорять темп дистракции без снижения качества регенерата.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Preprint
    唇裂和腭裂是最常见的先天性异常,是胚胎颅面突或腭架不完全融合的结果。分别。我们知道遗传学在这些异常中起着重要作用,但已知的因果基因列表远未完成。作为小颌畸形和腭裂患者的更大测序工作的一部分,我们确定了一种罕见的转化生长因子β受体2(TGFBR2)的候选变体,改变一个高度保守的氨基酸,并通过许多指标预测为致病性。家族史和人口遗传学表明,这种特定的变异将是不完全渗透的,但是这个基因与颅面发育有关.为了检验假设,这可能是一个因果变体,我们使用基因组编辑在新的小鼠模型中创建直系同源变体.令人惊讶的是,Tgfbr2V387M小鼠没有表现出颅面异常或存活率降低,这表明这是,事实上,不是腭裂/小颌畸形的因果变异。计算机模拟预测与小鼠表型之间的差异凸显了将人类基因发现转化为小鼠模型的复杂性。我们希望这些发现将有助于解释先天性颅面异常患者正在进行的测序中在TGFBR2中看到的未来变异。
    Cleft lip and cleft palate are among the most common congenital anomalies and are the result of incomplete fusion of embryonic craniofacial processes or palatal shelves, respectively. We know that genetics play a large role in these anomalies but the list of known causal genes is far from complete. As part of a larger sequencing effort of patients with micrognathia and cleft palate we identified a candidate variant in transforming growth factor beta receptor 2 (TGFBR2) which is rare, changing a highly conserved amino acid, and predicted to be pathogenic by a number of metrics. The family history and population genetics would suggest this specific variant would be incompletely penetrant, but this gene has been convincingly implicated in craniofacial development. In order to test the hypothesis this might be a causal variant, we used genome editing to create the orthologous variant in a new mouse model. Surprisingly, Tgfbr2V387M mice did not exhibit craniofacial anomalies or have reduced survival suggesting this is, in fact, not a causal variant for cleft palate/ micrognathia. The discrepancy between in silico predictions and mouse phenotypes highlights the complexity of translating human genetic findings to mouse models. We expect these findings will aid in interpretation of future variants seen in TGFBR2 from ongoing sequencing of patients with congenital craniofacial anomalies.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    新生儿和婴儿的阻塞性睡眠呼吸暂停提出了独特的挑战,在睡眠生理上存在明显差异。病因,和管理相比,年龄较大的孩子。在婴儿中,多导睡眠图的适应症和解释不太明确。在这个年龄组中也没有广泛接受的治疗睡眠呼吸暂停的临床实践指南。病因包括婴儿上呼吸道阻塞的一般原因,例如喉软化症,小颌畸形,鼻塞以及腺样体扁桃体肥大。治疗策略必须针对特定患者的特定解剖特征和合并症,并且通常需要多学科方法。
    Obstructive sleep apnea in newborns and infants presents a unique challenge with distinct differences in sleep physiology, etiologies, and management compared to older children. The indications for and interpretation of polysomnography are less well defined in infants. There are also no broadly accepted clinical practice guidelines for treating sleep apnea in this age group. Etiologies include general causes of upper airway obstruction in infants such as laryngomalacia, micrognathia, and nasal obstruction in addition to adenotonsillar hypertrophy. Treatment strategies must be tailored to the specific anatomic features and comorbidities of the specific patients and often require a multidisciplinary approach.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    皮埃尔·罗宾序列(PRS),一种罕见的先天性疾病,是小颌畸形的三合会,舌下垂,和舌源性气道阻塞(TBSO)。它可能是孤立异常(iPRS)或综合征(sPRS)的一部分,就像斯蒂克勒综合症一样。大约20%的PRS患儿患有先天性心脏病。据我们所知,这种一天大的婴儿病例是第一个被报道有两个心脏缺陷的病例;PierreRobbinSequence儿童的动脉导管未闭和卵圆孔未闭。
    Pierre Robin Sequence (PRS), a rare congenital disorder, is a triad of micrognathia, glossoptosis, and tongue based airway obstruction (TBSO). It may occur as isolated anomaly (iPRS) or as a part of a syndrome (sPRS), like that seen in association with Stickler Syndrome. Approximately 20% of children with PRS have congenital heart diseases. To the best of our knowledge this case of a one-day old infant is the first one to be reported as having two heart defects; patent ductus arteriosus and patent foramen ovale in Pierre Robbin Sequence child.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    Edwards syndrome, also known as trisomy 18, is a rare chromosomal disorder associated with multiple congenital anomalies and high morbidity. This report presents the case of a three-month-old female infant diagnosed with Edwards syndrome, presenting classic phenotypic features, including low-set ears, micrognathia, and a rocker bottom foot. The infant\'s condition was further complicated by cardiac abnormalities and respiratory distress, necessitating a comprehensive, multidisciplinary approach involving pediatricians, cardiologists, and orthopedic specialists. The diagnostic journey involved addressing challenges related to respiratory distress syndrome, bronchiolitis, and cardiac complications. The management approach underscored the significance of individualized care tailored to the patient\'s unique needs. Genetic counseling played a pivotal role in providing essential support to the family facing the complexities associated with Edwards syndrome. This case report highlights the intricacies of Edwards syndrome and contributes to the ongoing discourse on refining clinical strategies for enhanced care and compassionate support. Additionally, it emphasizes the need for further research to advance our understanding of this condition and guide future interventions.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    目的:前瞻性评估产前超声筛查诊断为小颌畸形的胎儿的预后。
    方法:在2019年1月至2022年12月之间,建立了IFA的正常范围,以评估11至20孕周的中国人群中小颌畸形胎儿的面部轮廓,并描述了胎儿小颌畸形的妊娠结局。收集了这些怀孕的医疗记录,包括家族史,孕产妇人口统计学,超声检查结果,基因检测结果,和妊娠结局。
    结果:超声诊断出25例胎儿小颌畸形,平均IFA值为43.6°。初始扫描中的所有孤立的胎儿小颌畸形病例在以下扫描中是非孤立的。共有78.9%(15/19)的病例有遗传原因确诊,包括12例染色体异常和3例单基因疾病。单基因疾病都是小颌畸形的已知原因,包括2例受SOX9突变影响的钟形发育不良和1例EFTUD2突变的下颌面骨发育不良。最后,19例被终止,1个活产被诊断为皮埃尔·罗宾综合征,5例失访。
    结论:IFA是一个有用的指标,三维超声是胎儿小颌畸形产前诊断的重要支持技术。重复超声监测和基因检测至关重要,推荐CMA,报告正常阵列时进行全外显子组测序。孤立的胎儿小颌畸形可能是单基因疾病的早期表现。
    OBJECTIVE: To prospectively evaluate the prognosis of fetuses diagnosed with micrognathia using prenatal ultrasound screening.
    METHODS: Between January 2019 and December 2022, a normal range of IFA to evaluate the facial profile in fetuses with micrognathia in a Chinese population between 11 and 20 gestational weeks was established, and the pregnancy outcomes of fetal micrognathia were described. The medical records of these pregnancies were collected, including family history, maternal demographics, sonographic findings, genetic testing results, and pregnancy outcomes.
    RESULTS: Ultrasound identified 25 patients with fetal micrognathia, with a mean IFA value of 43.6°. All cases of isolated fetal micrognathia in the initial scans were non-isolated in the following scans. A total of 78.9% (15/19) cases had a genetic cause confirmed, including 12 with chromosomal abnormalities and 3 with monogenic disorders. Monogenic disorders were all known causes of micrognathia, including two cases of campomelic dysplasia affected by SOX9 mutations and one case of mandibulofacial dysostosis with an EFTUD2 mutation. In the end, 19 cases were terminated, 1 live birth was diagnosed as Pierre Robin syndrome, and 5 cases were lost to follow-up.
    CONCLUSIONS: IFA is a useful indicator and three-dimensional ultrasound is a significant support technique for fetal micrognathia prenatal diagnosis. Repeat ultrasound monitoring and genetic testing are crucial, with CMA recommended and Whole exome sequencing performed when normal arrays are reported. Isolated fetal micrognathia may be an early manifestation of monogenic disorders.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    背景:我们研究了综合征型和非综合征型的小颌畸形如何影响儿童困难的插管结局。主要结果是气管插管的首次尝试成功率,次要结局是插管尝试次数和并发症.我们假设综合征性小颌畸形与较低的首次尝试成功率有关。
    方法:在儿科困难插管登记处(08/2012-03/2019)的微颌患者中,我们使用标准化平均差异(SMD)回顾性比较了非综合征性和综合征性微颌病患者之间的人口统计学和临床特征,并使用倾向评分匹配分析评估结果与气道评估结果的匹配,评估了综合征的存在与主要和次要结局的关联。
    结果:非综合征患者(628)不太可能有额外的气道异常。综合征患者(216)不太可能出现意外困难的插管(2%vs.20%,SMD0.59)。首次插管成功率为:综合征组38%,非综合征组34%(比值比[OR]1.18;95%置信区间[95%CI]0.74,1.89;p=0.478),和37%对37%(OR0.99;95%CI0.66,1.48;p=.959)。插管尝试的中位数为2(四分位间距[IQR]:1,3;范围:1,8)对2(IQR:1,3;范围1,12)(中位数回归系数=0;95%CI:-0.7,0.7;p=.999)和2(IQR:1,3;范围:1,12)对2(IQR:1,3;范围:999;范围1,8);p=0并发症发生率分别为14%对22%(OR0.6;95%CI0.34,1.04;p=.07)和16%对21%(OR0.71;95%CI0.43,1.17;p=.185)。
    结论:综合征的存在与插管的首次尝试成功率较低无关,插管尝试次数,或难以插管的小颌患者的并发症发生率,尽管更多相关的颅面异常。非综合征患者更有可能出现意想不到的困难插管,首次尝试直接喉镜检查。
    BACKGROUND: We investigated how syndromic versus nonsyndromic forms of micrognathia impacted difficult intubation outcomes in children. Primary outcome was the first-attempt success rate of tracheal intubation, secondary outcomes were number of intubation attempts and complications. We hypothesized that syndromic micrognathia would be associated with lower first-attempt success rate.
    METHODS: In micrognathic patients enrolled in the Pediatric Difficult Intubation Registry (08/2012-03/2019) we retrospectively compared demographic and clinical characteristics between children with nonsyndromic and syndromic micrognathia using standardized mean differences (SMD) and assessed the association of the presence of syndrome with the primary and secondary outcomes using propensity score matching analysis with and without matching for airway assessment findings.
    RESULTS: Nonsyndromic patients (628) were less likely to have additional airway abnormalities. Syndromic patients (216) were less likely to have unanticipated difficult intubation (2% vs. 20%, SMD 0.59). First-attempt success rates of intubation were: 38% in the syndromic versus 34% in the nonsyndromic group (odds ratio [OR] 1.18; 95% confidence intervals [95% CI] 0.74, 1.89; p = .478), and 37% versus 37% (OR 0.99; 95% CI 0.66, 1.48; p = .959). Median number of intubation attempts were 2 (interquartile range [IQR]: 1, 3; range: 1, 8) versus 2 (IQR: 1, 3; range 1, 12) (median regression coefficient = 0; 95% CI: -0.7, 0.7; p = .999) and 2 (IQR: 1, 3; range: 1, 12) versus 2 (IQR: 1, 3; range 1, 8) (median regression coefficient = 0; 95% CI: -0.5, 0.5; p = .999). Complication rates were 14% versus 22% (OR 0.6; 95% CI 0.34, 1.04; p = .07) and 16% versus 21% (OR 0.71; 95% CI 0.43, 1.17; p = .185).
    CONCLUSIONS: Presence of syndrome was not associated with lower first-attempt success rate on intubation, number of intubation attempts, or complication rate among micrognathic patients difficult to intubate, despite more associated craniofacial abnormalities. Nonsyndromic patients were more likely to have unanticipated difficult intubations, first attempt with direct laryngoscopy.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    Robin序列是一种先天性异常,其特征是具有以下特征的三元组:微下颌,舌下垂,和气道阻塞。这个全面的历史回顾绘制了方法和设备的演变,从过去到现代工程的跨学科组合的现代可能性,医学,材料,和计算机科学相结合的方法,重点是设计受自然和个体人体解剖学启发的电器。目前的仿生设计在临床应用,导致更高效的电器,舒适,可持续,比传统设计更安全。这篇综述绘制了多年来用于Robin序列患者的治疗方式。罗宾序列的早期管理主要集中在气道维持和喂养支持,而当前的管理策略涉及非手术和手术干预以及仿生生物相容性个性化矫治器。本文的目的是对Robin序列患者的管理策略的演变进行综述,这些策略导致当前的跨学科仿生方法影响了Robin序列治疗的未来,而仿生药物处于最前沿。
    The Robin sequence is a congenital anomaly characterized by a triad of features: micrognathia, glossoptosis, and airway obstruction. This comprehensive historical review maps the evolution of approaches and appliances for its treatment from the past to the current modern possibilities of an interdisciplinary combination of modern engineering, medicine, materials, and computer science combined approach with emphasis on designing appliances inspired by nature and individual human anatomy. Current biomimetic designs are clinically applied, resulting in appliances that are more efficient, comfortable, sustainable, and safer than legacy traditional designs. This review maps the treatment modalities that have been used for patients with a Robin sequence over the years. Early management of the Robin sequence focused primarily on airway maintenance and feeding support, while current management strategies involve both nonsurgical and surgical interventions and biomimetic biocompatible personalized appliances. The goal of this paper was to provide a review of the evolution of management strategies for patients with the Robin sequence that led to the current interdisciplinary biomimetic approaches impacting the future of Robin Sequence treatment with biomimetics at the forefront.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: English Abstract
    A method for diagnosing, planning and surgical treatment of patients with micrognathia of the mandible with physiological occlusion is proposed, which makes it possible to objectively assess the severity of the anomaly and concomitant functional disorders of external respiration in the nasopharynx and oropharynx, as well as to identify the pathophysiological mechanisms of obstructive sleep apnea syndrome (OSAS) and develop an optimal surgical treatment plan with high functional and aesthetic results.
    Предложен метод диагностики, планирования и хирургического лечения пациентов с микрогнатией нижней челюсти при физиологической окклюзии, позволяющий объективно оценить степень выраженности аномалии и сопутствующих функциональных нарушений внешнего дыхания в области носо- и ротоглотки, а также выявить патофизиологические механизмы синдрома обструктивного апноэ во сне (СОАС) и разработать оптимальный план хирургического лечения с высокими функциональными и эстетическими результатами.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

公众号