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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 : 2026-03-01 Epub 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
Computer-assisted total temporomandibular joint replacement with a hybrid basket-type mandibular component in recurrent mandibular keratocysts: Report of two cases 计算机辅助全颞下颌关节置换术加混合篮型下颌假体治疗复发性下颌角化囊肿2例报告
Q3 Dentistry Pub Date : 2026-03-01 Epub Date: 2026-02-01 DOI: 10.1016/j.omsc.2026.100440
María Gabriela Nassif , Facundo Zamar , Lucas Ritacco , Juan José Larrañaga , Marcelo Figari , Federico Garola

Background

Odontogenic keratocysts (OKCs) are benign lesions with aggressive biological behavior and high recurrence rates, particularly when involving anatomically complex regions such as the mandibular condyle and adjacent skull base structures. In these settings, repeated conservative approaches often fail, while radical resection poses major functional and esthetic challenges.

Case presentation

Two patients with recurrent, aggressive mandibular OKC involving the condylar, pterygoid, and zygomatic regions were treated by en bloc resection followed by computer-assisted total temporomandibular joint replacement (TMJ-TJR). Virtual surgical planning based on fused CT–MRI datasets and intraoperative navigation were used to guide both resection and reconstruction. Reconstruction was performed using patient-specific prostheses incorporating a hybrid basket-type mandibular component designed to accommodate an autologous iliac crest bone graft.

Results

Complete removal of the affected hard and soft tissues was achieved in both cases. At long-term follow-up (7 and 9 years), no evidence of recurrence was observed. Both patients demonstrated stable occlusion, satisfactory facial symmetry, and adequate mandibular function.

Conclusion

In carefully selected cases of recurrent OKC involving the condylar region, computer-assisted TMJ-TJR using a hybrid basket-type mandibular component may represent a viable reconstructive option, enabling radical disease control while restoring mandibular form and function in anatomically challenging scenarios.
牙源性角化囊肿(OKCs)是一种具有侵袭性生物学行为和高复发率的良性病变,特别是当涉及解剖学复杂的区域,如下颌髁和邻近的颅底结构时。在这些情况下,重复的保守方法往往会失败,而根治性切除会带来主要的功能和美学挑战。病例介绍:2例复发性侵袭性下颌OKC累及髁突、翼状和颧骨区,采用整体切除后电脑辅助全颞下颌关节置换术(TMJ-TJR)治疗。基于融合的CT-MRI数据集和术中导航的虚拟手术计划用于指导切除和重建。重建使用患者特异性假体,包括混合篮型下颌假体,设计用于容纳自体髂骨移植物。结果两例患者均能完全切除受累的硬、软组织。在长期随访(7年和9年)中,未观察到复发的证据。两例患者均表现出稳定的咬合,满意的面部对称性和足够的下颌功能。结论:在精心挑选的涉及髁突区域的复发性OKC病例中,使用混合篮型下颌假体的计算机辅助TMJ-TJR可能是一种可行的重建选择,可以在具有解剖学挑战性的情况下实现根治性疾病控制,同时恢复下颌形状和功能。
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引用次数: 0
Assessment of flexible β-TCP plates in orbital floor fracture management: A prospective clinical and Radiographic study 评估弹性β-TCP钢板在眶底骨折治疗中的应用:一项前瞻性临床和影像学研究
Q3 Dentistry Pub Date : 2026-03-01 Epub Date: 2025-12-25 DOI: 10.1016/j.omsc.2025.100433
Raghad Eid, Eiad Khouri, Nadim Sleman

Background

The orbital floor represents a complex challenge in facial trauma, often requiring reconstruction using materials that provide a stable base and restore the correct orbital volume.

Purpose

The aim of this study is to evaluate the efficacy of a novel flexible β-TCP plate in orbital floor reconstruction, focusing on anatomical restoration, functional outcomes, and safety profiles.

Methods

A prospective clinical study of 10 patients (8 males, 2 females; aged 20–70 years) with orbital floor fractures was conducted. Treatment involved surgical reconstruction using β-TCP plates. Preoperative assessment included CT imaging and ophthalmologic evaluation (visual acuity, forced duction test). β-TCP plates were applied via a subciliary approach to reconstruct the orbital floor. Clinical and radiological evaluations were performed at 15 days, 1, 3, and 6 months postoperatively.

Results

Anatomical outcomes showed complete enophthalmos resolution in 80 % of cases (8/10), with minor residual enophthalmos in 30 % (3/10). Functional recovery was excellent, with diplopia resolving in all cases (9/9) and unrestricted ocular motility achieved in 100 % of patients. The procedure was safe, with no infections, implant migrations, or extrusions observed. Radiologic integration was confirmed by stable graft positioning on CT scans during follow-up.

Conclusion

The flexible β-TCP plate demonstrates excellent efficacy in orbital floor reconstruction, with high rates of functional recovery and minimal complications. Its adaptability and biocompatibility support its use as a viable alternative to traditional materials. Larger studies with extended follow-up are warranted to validate long-term outcomes.
眶底是面部创伤的一个复杂挑战,通常需要使用能够提供稳定基底并恢复正确眶体积的材料进行重建。本研究的目的是评估一种新型柔性β-TCP钢板在眶底重建中的疗效,重点关注解剖恢复、功能结果和安全性。方法对10例眶底骨折患者(男8例,女2例,年龄20 ~ 70岁)进行前瞻性临床研究。治疗包括使用β-TCP钢板进行手术重建。术前评估包括CT成像和眼科评估(视力、强制导视试验)。经眶下入路应用β-TCP钢板重建眶底。分别于术后15天、1、3、6个月进行临床和影像学评价。结果80%(8/10)的病例眼内陷完全消失,30%(3/10)的病例眼内陷轻微残留。功能恢复非常好,所有病例复视消失(9/9),100%的患者实现了不受限制的眼球运动。手术是安全的,没有感染、植入物移位或挤压。随访期间,CT扫描显示植骨定位稳定,证实放射学整合。结论弹性β-TCP钢板用于眶底重建疗效显著,功能恢复率高,并发症少。它的适应性和生物相容性支持它作为传统材料的可行替代品。有必要进行更大规模的研究,延长随访时间,以验证长期结果。
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引用次数: 0
Temporomandibular joint ankylosis relapse in childhood: Functional and skeletal correction using a customized total TMJ prosthesis and orthognathic surgery—A 2-year follow-up case report 儿童颞下颌关节强直复发:使用定制全颞下颌关节假体和正颌手术进行功能和骨骼矫正- 2年随访病例报告
Q3 Dentistry Pub Date : 2026-03-01 Epub Date: 2026-01-31 DOI: 10.1016/j.omsc.2026.100441
Sandra Regina Guimarães , André Pereira Falcão , Aline do Nascimento Pires , Luiz Bianchi , Rodrigo Camargo Soares Figueiredo , Bruno Ynuie de Jesus , Ronald Alejandro Zegarra , Luiz Carlos Magno Filho
Temporomandibular joint ankylosis (TMJA) is debilitating condition characterized by fibrous or bony fusion of the disc-condyle complex to the temporal articular surface. In growing patients, this condition disrupts mandibular development and leads to severe dentofacial deformities and functional impairment. This case report describes the management of a 14-year-old female with recurrent TMJA and severe mandibular asymmetry after costochondral grafting performed at age six. Virtual surgical planning, bimaxillary orthognathic surgery, and unilateral customized total TMJ replacement were used in a single-stage protocol. At the 2-year follow-up, the patient demonstrated a stable increase in maximum mouth opening, improved occlusion, and enhanced facial symmetry without relapse. This case highlights the feasibility of alloplastic TMJ prostheses as a reconstructive option in select pediatric patient with recurrent ankylosis. Management of childhood TMJA is complex and requires extensive and rigorous planning; a customized TMJ prosthesis may represent a viable and safe option to improve clinical parameters in young patients.
颞下颌关节强直(TMJA)是一种衰弱性疾病,其特征是椎间盘-髁突复合体与颞关节表面的纤维或骨融合。在生长中的患者中,这种情况会破坏下颌发育并导致严重的牙面畸形和功能障碍。本病例报告描述了一名14岁女性在6岁时进行肋软骨移植后复发性TMJA和严重下颌不对称的处理。虚拟手术计划、双颌正颌手术和单侧定制全TMJ置换术在单阶段方案中使用。在2年的随访中,患者的最大开口稳定增加,咬合改善,面部对称性增强,无复发。本病例强调了同种异体颞下颌关节假体作为复发性强直患儿重建选择的可行性。儿童TMJA的管理是复杂的,需要广泛和严格的规划;定制TMJ假体可能是改善年轻患者临床参数的可行且安全的选择。
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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 : 2025-12-01 Epub 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
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 : 2025-12-01 Epub 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 : 2025-12-01 Epub 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
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 : 2025-12-01 Epub 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
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 : 2025-12-01 Epub 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
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 : 2025-12-01 Epub 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
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Oral and Maxillofacial Surgery Cases
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