mandibular hypoplasia

下颌骨发育不全
  • 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
    Objective To gather data from relevant experimental and observational studies to determine the relationship between micrognathia and cleft palate. The goal is to raise awareness and motivate clinicians to consider the cause and effect relationship when confronted with patients with cleft palate, even if there is no clearly noticeable mandibular abnormality. Design Several electronic databases were systematically examined to find articles for this review, using search terms including \"cleft palate,\" \"micrognathia,\" \"tongue,\" and \"airway obstruction.\" PubMed was the source of all the articles chosen to be included. Exclusion criteria included case reports, articles focused on treatment options, and articles only tangentially related to cleft palate and/or micrognathia. Results A total of 930 articles were screened for relevance, and 82 articles were chosen for further analysis. Evidence gathered in this review includes a variety of etiological factors that are causative or associated with both micrognathia and cleft palate. Observational studies relating the two abnormalities are also included. Much of the included literature recognizes a cause-and-effect relationship between micrognathia and cleft palate. Conclusion On the basis of the published data, we suggest that micrognathia does induce cleft palate in humans and animals. With knowledge of this causative relationship, clinicians should consider the importance of gathering cephalometric data on the mandibles and tongues of patients presenting with isolated cleft palate to determine whether they have micrognathia as well. With more data, patterns may emerge that could give insight into the complex etiology of nonsyndromic cleft palate.
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  • 文章类型: Journal Article
    A systematic review of English and non-English articles on the complications of mandibular distraction osteogenesis (MDO) for patients with developmental deformities was performed, in accordance with the PRISMA statement. Search terms expressing distraction osteogenesis were used in \'AND\' combination with search terms comprising \'mandible\' and terms for complication, failure, and morbidity. A search using PubMed (National Library of Medicine, NCBI), EMBASE, and Cochrane Controlled Trials Register yielded 644 articles published between 1966 and mid October 2013. Clinical articles that reported complications related to MDO in developmental deformities were included. Two hundred and fifty articles were eligible and were screened in detail. A total of 32 articles reporting the cases of 565 patients were finally included. Patients underwent mandibular lengthening and transverse widening. A total of 211 complications were reported (37.4%); these were classified according to an index that indicates the clinical impact. Inferior alveolar nerve (IAN) neurosensory disturbances, minor infection, device failure, anterior open bite, permanent dental damage, and skeletal relapse were most represented. Complications that resolved spontaneously (type I) were seen in 11.0%, medically or technically manageable complications, without hospitalization, were seen in 10.8% (type II), and permanent complications (type VI) were seen in 9.6%.
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  • 文章类型: Journal Article
    Craniofacial microsomia (CFM) is a complex condition associated with microtia, mandibular hypoplasia, and preauricular tags. It is the second most common congenital facial condition treated in many craniofacial centers and requires longitudinal multidisciplinary patient care. The purpose of this article is to summarize current recommendations for clinical management and discuss opportunities to advance clinical research in CFM.
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