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Deformed epidermal autoregulatory factor 1(DEAF 1) mutation-associated Macroglossia: A rare case report 畸形表皮自调节因子1(聋1)突变相关的大舌畸形:罕见病例报告
Q3 Dentistry Pub Date : 2025-12-08 DOI: 10.1016/j.omsc.2025.100430
Mohammed H. Albodbaij, Mohammed I. Albokhamseen, Bander Y. Alkarri
Macroglossia, or an abnormally large tongue, can appear in either a relative or a true form, and it is frequently linked to a specific syndrome. Enlargement may occur due to vascular malformations or stem from the expansion of muscles. Congenital macroglossia (present from birth) is rare, reported in fewer than 5 in every 100,000 live births. The condition associated with Down's syndrome is typically relative macroglossia, while true macroglossia is most commonly seen in individuals with Beckwith-Wiedemann syndrome. The recommended treatment for true macroglossia is a partial glossectomy to help secure the airway and prevent malocclusions. Herein, we describe the treatment of a patient presenting with the rare association of a pathogenic, de novo DEAF1 variant and macroglossia. Diagnosis was confirmed via whole-exome sequencing, and imaging and histopathology suggested underlying muscular hypertrophy. The patient underwent partial glossectomy using the keyhole technique. Postoperative follow-up was uneventful for eighteen months, with objective measurements confirming sustained reduction in tongue size and functional improvement. To our knowledge, this is the first reported association between a DEAF1 mutation and congenital macroglossia.
大舌症,或异常大的舌头,既可以以相对形式出现,也可以以真实形式出现,并且经常与特定综合征联系在一起。肿大可能是由于血管畸形或肌肉扩张引起的。先天性巨舌症(出生时就存在)是罕见的,据报道每10万活产儿中不到5例。与唐氏综合症相关的情况是典型的相对大失语,而真正的大失语最常见于患有贝克威氏综合征的个体。对于真正的大舌症,推荐的治疗方法是部分舌切除术,以帮助保护气道和防止错咬合。在这里,我们描述了一个病人的治疗提出了一个罕见的关联的致病性,新生聋变异和大舌。通过全外显子组测序确诊,影像学和组织病理学提示潜在的肌肉肥大。患者采用锁眼技术行部分舌切开术。术后随访18个月,客观测量证实舌头尺寸持续缩小,功能改善。据我们所知,这是首次报道聋1突变与先天性大舌缺失之间的联系。
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引用次数: 0
Maxillary recontouring in transfusion-dependent β-thalassemia major: A case for virtual surgical planning and navigation 输血依赖性β-地中海贫血的上颌轮廓重塑:一个虚拟手术计划和导航的案例
Q3 Dentistry Pub Date : 2025-12-07 DOI: 10.1016/j.omsc.2025.100431
Domenic Digioia , Timothy Nguyen , Usha Perepu , Felix Jose Amarista
Transfusion-dependent β-thalassemia (TDT), historically known as β-thalassemia major, is a monogenic disorder characterized by ineffective erythropoiesis and progressive skeletal deformity due to expansion of the bone marrow. Maxillofacial changes, including midfacial hyperplasia and malocclusion, result from chronic anemia-driven extramedullary hematopoiesis and can lead to significant functional and psychosocial morbidity. While systemic therapies continue to evolve, few reports describe modern surgical correction of craniofacial deformities. We present a digitally planned, guide-assisted maxillary recontouring in a patient with TDT and severe maxillary hyperplasia, emphasizing the role of virtual surgical planning (VSP) and intraoperative navigation.
输血依赖性β-地中海贫血(TDT),历史上被称为重度β-地中海贫血,是一种单基因疾病,其特征是红细胞生成能力低下和骨髓扩张导致的进行性骨骼畸形。颌面部的改变,包括面中增生和错颌,是慢性贫血驱动的髓外造血造成的,可导致严重的功能和心理疾病。虽然全身疗法不断发展,但很少有报道描述颅面畸形的现代手术矫正。我们在TDT和严重上颌增生患者中提出了一个数字计划,指导辅助上颌重塑,强调虚拟手术计划(VSP)和术中导航的作用。
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引用次数: 0
Management of a recurrent, expansile idiopathic bone cavity of the mandible with cellular bone matrix (VivoGen) and platelet rich plasma: A case report 细胞骨基质(VivoGen)和富血小板血浆治疗复发性、扩张性特发性下颌骨骨腔:1例报告
Q3 Dentistry Pub Date : 2025-10-31 DOI: 10.1016/j.omsc.2025.100425
Dana C. Jackson, Nnamdi Anosike, Flora Elena Sarmiento
Idiopathic bone cavity (IBC) is a bony lesion of undefined etiology or pathogenesis. It usually presents as a benign, slowly growing and painless lesion that is often discovered by dental providers during routine panoramic radiographic examination. The etiology is unclear, and this uncertainty has left surgeons without standard diagnostic criteria and treatment modalities, especially for large or extensive cases. In this article, we report a case of managing an extensive recurrent bilateral idiopathic bone cavity of the mandible with surgical debridement and curettage with the use of platelet rich plasma. The retreatment option discusses the use of a viable Cellular Bone Matrix (VivoGen) combined with platelet rich plasma (PRP) following debridement and curettage. The patient showed continuous mandibular bone growth and regeneration both clinically and radiographically after a year of follow up.
特发性骨腔(IBC)是一种病因和发病机制不明确的骨病变。它通常表现为良性,生长缓慢,无痛的病变,通常由牙科医生在常规全景放射检查中发现。病因尚不清楚,这种不确定性使外科医生没有标准的诊断标准和治疗方式,特别是对于大或广泛的病例。在这篇文章中,我们报告了一例治疗广泛复发的双侧特发性下颌骨骨腔的手术清创和刮除,并使用富血小板血浆。再治疗方案讨论了在清创和刮除后使用活细胞骨基质(VivoGen)结合富血小板血浆(PRP)。经过一年的随访,患者在临床和影像学上均表现出持续的下颌骨生长和再生。
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引用次数: 0
A novel technique to treat maxillary monostotic fibrous dysplasia 一种治疗上颌单一纤维发育不良的新技术
Q3 Dentistry Pub Date : 2025-10-31 DOI: 10.1016/j.omsc.2025.100424
Carson Van Etta, Connor Witty
A 27-year-old male presented to our outpatient clinic with right-sided facial asymmetry, describing significant difficulty wearing his respiratory protection mask system for his military occupation. Radiographic imaging revealed a right-sided expansile maxillary lesion—5.5 cm in largest dimension— occupying and narrowing most of the maxillary sinus with a ground-glass appearance. Clinical history, radiographic characteristics and examination of the lesion suggested a likely diagnosis of fibrous dysplasia, which was later confirmed histologically and genetically. A Tecnetium-99 bone scan subsequently ruled out a polyostotic form of fibrous dysplasia, noting only significant radiotracer uptake within the right maxilla. In this report, operative management of fibrous dysplasia is discussed along with a novel technique for surgical contouring— utilizing virtual surgical planning with a depth-drill guide mirroring the unaffected anatomy on the left side.
一名27岁男性因右侧面部不对称来到我们门诊就诊,描述其因军职而难以佩戴呼吸防护口罩系统。x线影像显示右侧上颌扩张病变,最大尺寸5.5 cm,占据大部分上颌窦并使其变窄,呈磨玻璃样。临床病史、影像学特征和病变检查提示纤维发育不良的可能诊断,后来经组织学和遗传学证实。随后的锝-99骨扫描排除了多骨增生形式的纤维发育不良,只注意到右侧上颌骨有明显的放射性示踪剂摄取。在这篇报道中,我们讨论了纤维结构不良的手术治疗以及一种新的手术轮廓技术——利用虚拟手术计划和深度钻孔引导镜镜像左侧未受影响的解剖结构。
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引用次数: 0
Beyond the danger triangle, the fulminant course of a facial infection: A case report 在危险三角之外,面部感染的暴发性病程:1例报告
Q3 Dentistry Pub Date : 2025-10-25 DOI: 10.1016/j.omsc.2025.100426
Haya H.R. Al-Bayyati , Jesse Brinkman , Arnaud F.K. D'Heygere , Leander Dubois

Introduction

The danger triangle of the face has a unique and highly vascularized anatomy, and therefore infections in this area pose a significant risk for fulminant spread.

Case presentation

A 30-year-old man presented himself with right facial swelling due to a subcutaneous pustule in the right beard area, outside of the danger triangle of the face. From here, the infection was able to spread to the orbital area and structures of the central nervous systems through the valveless facial vein. Here the infection caused permanent vision loss to the right eye as a result of the damage, together with intraventricular pus, causing loss of neurological function. Despite adequate efforts for source control, the infection could not be contained and caused pulmonary infectious bilateral empyema and pulmonary abscesses. Although the patient reported feeling better, imaging studies of the brain continued to show progressive lesions, such as watershed infarctions and possible secondary infection of these lesions. After two months of treatment, the patient's health was deemed sufficient to be transferred to a specialized rehabilitation center to try and recover the neurological functions lost.

Conclusion

Early identification and intervention in facial infections are vital to prevent complications, underscoring the need for clinician awareness. Source control and prevention of spread of the infection after identification are crucial for optimal patient outcomes.
面部的危险三角区具有独特且高度血管化的解剖结构,因此该区域的感染具有暴发性传播的重大风险。病例介绍:一名30岁男子因右胡子区皮下脓疱而右侧面部肿胀,位于面部危险三角外。从这里,感染能够通过无瓣面静脉扩散到眶区和中枢神经系统的结构。这种感染导致右眼永久性视力丧失,并伴有脑室内脓液,导致神经功能丧失。尽管进行了充分的源头控制,但感染仍不能得到控制,并导致肺部感染性双侧脓肿和肺脓肿。尽管患者报告感觉好转,但脑部影像学检查继续显示病变进展,如分水岭梗死和这些病变可能继发感染。经过两个月的治疗,病人的健康状况被认为足以转移到一个专门的康复中心,试图恢复失去的神经功能。结论面部感染的早期识别和干预对预防并发症的发生至关重要,临床医生应提高认识。传染源控制和识别后的感染传播预防对患者的最佳预后至关重要。
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引用次数: 0
Evaluation of the efficacy of three distinct lip repositioning techniques and identification of the approach associated with the lowest relapse rate. A six-month follow-up case report 评估三种不同的唇部复位技术的疗效,并确定复发率最低的方法。6个月随访病例报告
Q3 Dentistry Pub Date : 2025-09-11 DOI: 10.1016/j.omsc.2025.100423
Mohamad A. Alhomsi, Issa B. Wehbeh

Background

A beautiful smile is a key element of facial aesthetics, with an average gingival display of 1–3 mm in smile position. When gingival visibility exceeds this range, it is defined as a gummy smile. This condition may result from skeletal, dentoalveolar, or soft tissue factors.

Case description

Three patients with mild gummy smile were treated using different approaches: (i) traditional lip repositioning surgery, (ii) modified lip repositioning surgery, and (iii) Botox injection. Patients were monitored for two weeks to assess postoperative complications. Follow-up evaluations at two weeks, one month, three months, and six months assessed gingival exposure and relapse.

Conclusion

The modified lip repositioning procedure demonstrated greater stability between the three- and six-month follow-ups, with the least relapse, although it was associated with more postoperative complications. Botox was the most preferred option due to its non-invasive nature.
美丽的微笑是面部美学的关键元素,在微笑位置牙龈平均显示1-3毫米。当牙龈的可见度超过这个范围时,就被定义为粘牙微笑。这种情况可能是由骨骼、牙槽牙或软组织因素引起的。病例描述对3例轻度粘笑患者采用不同的治疗方法:(i)传统的唇部复位手术,(ii)改良的唇部复位手术和(iii)注射肉毒杆菌。对患者进行为期两周的监测以评估术后并发症。随访2周,1个月,3个月和6个月评估牙龈暴露和复发。结论改良的唇部复位手术在3 ~ 6个月的随访中表现出更大的稳定性,复发率最低,但术后并发症较多。肉毒杆菌素是最受欢迎的选择,因为它的非侵入性。
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引用次数: 0
Rehabilitation of the atrophic maxilla: Guided Le Fort I maxillary advancement and zygomatic implants with and immediate loading 萎缩上颌的康复:引导Le Fort I上颌前进和颧种植体与即刻负荷
Q3 Dentistry Pub Date : 2025-09-11 DOI: 10.1016/j.omsc.2025.100422
Rémy Raphael , Dimitri Pascual

Introduction

The full-arch rehabilitation of the atrophic maxilla using four zygomatic implants (ZI) has become a widespread solution, allowing us to bypass bone grafting procedures. However, the palatal prosthetic emergences inherent to the skeletal discrepancy cause significant discomfort for patients due to prosthetic compensations volume.

Observation

A 60-year-old patient, completely edentulous at the maxillary with severe atrophy and a skeletal Class III, was referred to us for full rehabilitation. We use an innovant surgical guide to perform the Le Fort I osteotomy, placement of four zygomatic implants, and immediate loading of a screw-retained Zirconia bridge without prosthetic compensation in one single surgery virtually planned.

Conclusion

Zygomatic implant and orthognathic rehabilitation, using a custom surgical guide, offers an accurate solution to restore in a single surgery, the oral function with an immediate loading prothesis when the maxilla atrophy is severe in skeletal Class III.
使用四个颧植入物(ZI)对萎缩的上颌骨进行全弓康复已经成为一种广泛的解决方案,使我们能够绕过植骨手术。然而,由于假体代偿体积的差异,腭假体出现固有的骨骼差异会给患者带来明显的不适。一位60岁的患者,上颌完全无牙,严重萎缩,骨骼为III级,被转介到我们进行完全康复。我们使用一种创新的手术指南,在一次手术中完成Le Fort I型截骨术,放置四个颧骨植入物,并立即加载螺钉保留的氧化锆桥,而无需假体补偿。结论颧骨种植和正颌康复,采用定制的手术指导,可以在颌骨严重萎缩的情况下,单次手术修复即刻加载假体的口腔功能。
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引用次数: 0
Spindle cell lipoma in the pterygomandibular space: A case report 翼状下颌间隙梭形细胞脂肪瘤1例
Q3 Dentistry Pub Date : 2025-08-30 DOI: 10.1016/j.omsc.2025.100420
Natsumi Takamaru , Naoyuki Fukuda , Kazuya Akita , Yukihiro Nogami , Takaaki Tsunematsu , Naito Kurio
Spindle cell lipoma (SCL) is a subtype of lipoma classified by Enzinger et al. in 1975. It is a benign tumor commonly found in the subcutaneous tissue of the shoulder, back, and posterior neck in middle-aged men. This report describes a rare case of low-fat type SCL in the pterygomandibular space. A 33-year-old man was referred to the department for further examination and treatment of a radiolucent area of the left mandibular ramus incidentally detected on a panoramic radiograph taken by a general dentist. Computed tomography and magnetic resonance imaging showed a 50 mm mass with apparent continuity with the inferior alveolar neurovascular bundle in the pterygomandibular space. An incisional biopsy prompted a provisional diagnosis of neurofibroma, and the whole tumor was excised under general anesthesia. Histopathologically, the tumor was found to consist of spindle-shaped cells, adipocytes, and collagen fibers, resulting in a final diagnosis of SCL. There has been no evidence of recurrence more than 5 years postoperatively.
梭形细胞脂肪瘤(Spindle cell lipoma, SCL)是1975年Enzinger等人分类的一种脂肪瘤亚型。它是一种良性肿瘤,常见于中年男性肩部、背部和后颈部的皮下组织。本文报告一例罕见的翼状下颌间隙低脂型SCL。一名33岁男子被转介到科室进一步检查和治疗在全景x光片上偶然发现的左侧下颌骨分支的透光区域。计算机断层扫描和磁共振成像显示一个50毫米的肿块,与翼下颌间隙的下肺泡神经血管束有明显的连续性。切口活检提示神经纤维瘤的临时诊断,并在全身麻醉下切除整个肿瘤。组织病理学发现肿瘤由梭形细胞、脂肪细胞和胶原纤维组成,最终诊断为SCL。术后5年以上无复发迹象。
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引用次数: 0
Preservation otoplasty 保护耳部整形
Q3 Dentistry Pub Date : 2025-08-27 DOI: 10.1016/j.omsc.2025.100419
A. Mentone , E. Esposito , M. Funaro , A. Santorelli
Auricular anomalies can present a wide spectrum, ranging from mild deformities to severe malformations that not only impact the ear's shape but may also impair auditory function. These conditions often lead to emotional challenges and self-esteem issues in affected patients. Numerous otological abnormalities have been anatomically classified, prompting the development of various corrective techniques. Approaches to treating auricular malformations range from traditional and more invasive methods, often associated with higher patient morbidity, to newer and minimally invasive otoplasty techniques introduced in recent years. Recognizing the need to provide patients with a definitive solution while minimizing the complications linked to conventional otoplasty, we propose a novel technique called “Preservation Otoplasty.”
耳廓畸形的范围很广,从轻微的畸形到严重的畸形,不仅会影响耳朵的形状,还可能损害听觉功能。这些情况通常会导致患者的情绪挑战和自尊问题。许多耳科异常已被解剖分类,促使各种矫正技术的发展。治疗耳廓畸形的方法包括从传统的侵入性方法(通常与较高的患者发病率相关)到近年来引入的新型微创耳廓成形术。认识到需要为患者提供一个明确的解决方案,同时最大限度地减少与传统耳成形术相关的并发症,我们提出了一种称为“保留耳成形术”的新技术。
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引用次数: 0
Cranial base fracture associated with pneumocephalus and cerebrospinal fluid leakage following surgically-assisted rapid maxillary expansion: A case report 手术辅助快速上颌扩张术后颅底骨折合并脑气和脑脊液漏1例报告
Q3 Dentistry Pub Date : 2025-08-24 DOI: 10.1016/j.omsc.2025.100418
Tariq Wahass , Khalid Almutairi , Fares Alrawashedah , Mohammed Assiri , Ali Almontashari
Surgically assisted rapid palatal expansion (SARPE) is generally safe, with rare major complications. We report a unique case of a 22-year-old woman with a history of meningomyelocele who developed pneumocephalus and cerebrospinal fluid (CSF) rhinorrhea six days after SARPE with pterygomaxillary disjunction. Imaging revealed a skull base fracture at the roof of the right sphenoid sinus and bilateral ossified pterygospinous ligaments, which may have redirected osteotomy forces to the cranial base. The patient presented with positional headaches and clear nasal discharge, and CSF leakage was confirmed by MRI. She was successfully managed with conservative treatment, including bed rest, head elevation, and antibiotics. This case highlights the importance of recognizing anatomical variations that may predispose patients to skull base injury during SARPE and stresses the need for prompt evaluation of symptoms like rhinorrhea and headache. Early diagnosis and non-surgical management can lead to favorable outcomes, even in the presence of complex skull base fractures.
手术辅助快速腭扩张(SARPE)通常是安全的,很少有主要并发症。我们报告一个独特的情况下,22岁的女性脑膜脊膜膨出的历史,谁发展的气脑和脑脊液(CSF)鼻漏SARPE后6天与翼状腋窝分离。影像学显示右侧蝶窦顶部颅底骨折,双侧翼状韧带骨化,可能导致截骨力重定向至颅底。患者表现为体位性头痛,鼻分泌物明显,MRI证实脑脊液渗漏。她成功地通过保守治疗,包括卧床休息,抬高头部和抗生素。本病例强调了认识解剖变异的重要性,这些变异可能使患者在SARPE期间易发生颅底损伤,并强调了及时评估鼻漏和头痛等症状的必要性。早期诊断和非手术治疗可导致良好的结果,即使在存在复杂的颅底骨折。
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引用次数: 0
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Oral and Maxillofacial Surgery Cases
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