McCune-Albright综合征1例报告并文献复习

目的:探讨并提高对 McCune-Albright综合征的认识.方法:通过1例McCune-Albright综合征患者的临床资料和文献复习,详细分析McCune-Albright综合征的病因、临床表现、诊断、治疗及预后.结果:目前遵循的MAS 诊断标准为: 具有多发性骨纤维发育不良、加上至少一种典型的内分泌功能亢进, 和(或) 特异性皮肤色素沉着.基因诊断,可通过从超声引导下穿刺卵巢滤泡得到的囊内液、异常骨组织等病灶中取材行基因分析,发现Gs α基因的突变而确定.结论:McCune-Albright综合征在临床上十分少见且尚未被国内多数临床医生所认识,易被误诊或漏诊.治疗主要是对症治疗, 尚无有效根治方法.对于性早熟的患者以及皮肤的咖啡色色素沉着的患者应考虑到该病, 早发现有助于治疗.     

McCune-Albright综合征伴牙源性角化囊肿及成釉细胞瘤1例报道

<正>McCune-Albright综合征(McCune-Albright Syndrome)是一种罕见的鸟嘌呤核苷酸结合蛋白(G蛋白)病,临床以多发性骨纤维异常增殖症、皮肤斑片状色素沉着及性早熟为最常见症状。口腔颌面部常     

Sturge-Weber综合征1例报告及文献复习

目的探讨SturgeWeber综合征的临床特点、诊断方法及治疗手段。方法对1例不典型Sturge-Weber综合征的临床资料进行总结,复习文献以比较各种治疗方法的临床疗效。结果对症治疗效果良好。促脑代谢药物可减轻神经症状,激光治疗皮肤血管痣疗效确切,动脉栓塞治疗颊部血管瘤体积缩小60%以上,随访半年未见增大。结论该病综合治疗的效果明显好于单一疗法。     

AEC综合征1例报告及文献复习

AEC综合征是一种罕见的以睑缘黏连、外胚层发育不全及面裂为主要临床表征的基因病。目前,国内尚未见该病的报道。本文报告1例AEC综合征病例,根据患者的临床表现,制订相应的治疗方案,手术修复左侧唇裂,术后患者外形有一定改善。通过文献复习,对AEC综合征的病因、临床表现、鉴别诊断及序列治疗进行了讨论。由于AEC综合征临床表现多样,严重影响患者面容及生长发育,因此,应增强对本病的认识,并进行系统序列治疗。     

基底细胞痣综合征1例报告及文献复习

基底细胞痣综合征属常染色体显性遗传性疾病,系由多发性颌骨角化囊肿、皮肤基底细胞痣(癌)、骨骼系统异常以及各种其他缺陷所组成的一种复杂罕见的综合征,本文报告1例典型病例,对其主要发病机制、临床特点、诊断和治疗等进行回顾分析。     

Sturge-Weber综合征:1例报告及文献复习

Sturge—weber综合征是一种罕见的先天性神经皮肤综合征，以颜面部皮肤微静脉畸形、癫痫、青光眼和脑部异常钙化等为主要特征，其发病机制尚不清楚。本文报告1例典型病例，对其主要临床特点、发生率、诊断和治疗的相关文献进行回顾分析。     

SAPHO综合征累及颌骨：1例报告及文献复习

SAPHO（滑膜炎-痤疮-脓疱病-骨肥厚-骨炎）综合征可累及上、下颌骨,表现为慢性复发性多灶性骨髓炎,较为罕见。作者报告1例病例,详细描述其临床特征、影像学表现、手术所见、病理结果以及随访情况,并结合文献对其病因、临床表现、组织病理学及治疗方法进行分析和讨论。     

颅骨锁骨发育不全综合征：1例家系报告及文献复习

颅骨锁骨发育不全综合征是一种先天性全身骨骼发育不全性疾病,临床罕见,以锁骨发育不良、囟门闭合延迟、方颅、乳牙脱落延迟、恒牙迟萌或阻生、多生牙以及颌骨形态异常为主要临床特征。本文报告1例颅骨锁骨发育不全综合征家系,并结合相关文献,对该病的发病率、发病机制、临床表现、诊断及治疗进行讨论。     

甲状腺滤泡癌下颌骨转移1例报道及文献复习

目的探讨甲状腺滤泡癌发生下颌骨转移的临床病理学特征、诊断、鉴别诊断及治疗方法。方法报道1例甲状腺滤泡癌术后3年发生下颌骨转移患者的临床特征、病理学检查及治疗方法,并复习文献。结果女性患者49岁,右下颌面部巨大肿物,张口受限,吞H因困难,影响进食。全景片示左侧下颌角区及升支区骨质透射影,CT检查示下颌骨升支、下颌角骨质破坏,左侧咽旁间隙受压变窄,考虑为甲状腺癌骨转移可能性大。行“左下颌骨次全切除术和左下颌骨巨大肿物扩大切除术”。手术标本病理学检查,显微镜下瘤细胞呈梁索状或滤泡样结构,滤泡内有胶质。瘤细胞呈圆形,胞浆丰富红染,核小、颗粒状,核分裂象不多见。免疫组织化学表型显示甲状腺转录因子1（＋）、甲状腺球蛋白（＋）、细胞角蛋白20（-）、降钙素（-）、嗜铬粒蛋白A（-）、突触素（-）,提示甲状腺滤泡癌的下颌骨转移。术后患者恢复良好,颌面部疼痛缓解,进食明显改善,术后1周出院。结论甲状腺滤泡癌易于发生血运传播,对于下颌骨转移的病灶,可行挽救性手术切除,以减轻患者症状,改善其生活质量。对于已发生远处转移病例,其预后通常较差。     

下颌骨溶骨症1例报告及文献复习

溶骨症又称Gorham综合征，临床罕见，其病因及发病机制尚不清楚，以自发性进行性骨溶解吸收为主要临床表现。溶骨症可发生于任何年龄，特别好发于5-25岁，无明显性别差异，可发生于单一骨骼，也可跨过关节，侵犯多个骨骼。目前认为，早期彻底切除可有效阻止病变进展。作者报告1例，并结合相关文献，对该病的临床特点，好发部位，诊断与鉴别诊断及治疗方法进行讨论。     

Lowe syndrome: literature review and case report

Abstract

This paper is the first to describe dental findings and orthodontic characteristics of a young adult patient with Lowe syndrome. This syndrome is a rare genetic disorder inherited by a sex-linked pattern, involving primarily the kidneys, eyes and nervous system, which also present oral manifestations. This paper also present the results of careful extra and intra-oral evaluations and the findings of panoramic and cephalometric radiographs of an 18-year-old male with Lowe syndrome.     

Larsen syndrome: a review of the literature and case report

Larsen syndrome is a rare genetic disorder characterized by multiple dislocations of the large joints and characteristic craniofacial abnormalities. It exists in both a severe autosomal recessive form and a mild autosomal dominant variety. To date, only three authors have reported oral findings for this syndrome. This paper describes an 8‐year‐old Chinese boy with Larsen syndrome who had advanced periodontitis. The need for periodontal therapy and regular monitoring of such patients has been highlighted.     

Schwartz-Jampel syndrome: a review of the literature and case report

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia. The manifestations of SJS include short stature, blepharophimosis, and skeletal anomalies. The combination of skeletal and muscular abnormalities may result in oro-dental manifestations such as atypical facies, with micrognathia, microstomia, pursed lips, crossbite, cleft palate, as well as mandibular hypoplasia, the risk of dentigerous cysts, and impacted teeth. The use of general anesthesia in patients with SJS is dangerous, as there is a risk of malignant hyperthermia. The purpose of this paper is to describe a 3-year-old Chinese boy diagnosed with SJS at birth. His intra-oral examination revealed significant dental findings such as dentin defects with generalized attrition and hypodontia of the permanent dentition. Comprehensive dental treatment was provided at the same time as lower right limb surgery to reduce the potential complications with general anesthesia.     

Marfan syndrome: a review of the literature and case report

Marfan syndrome (MFS) is a connective tissue disorder of variable inheritance that affects multiple organ systems. Cardiovascular, ocular, and skeletal abnormalities are cardinal features of the syndrome. Orofacially, MFS patients typically exhibit skeletal class II malocclusion, dolichofacial growth pattern, mandibular retrognathia, malar hypoplasia, high arched palate, dental crowding, and root anomalies. The purpose of this paper is to provide a review of the literature, as well as describe an 11‐year‐old female with MFS diagnosed at the age of 10.5 years. This report emphasizes the orofacial findings in MFS and highlights particularities of dental treatment when social deficits and intellectual disabilities are also implicated.     

歌舞伎综合征伴先天性膈疝一例及相关文献回顾

歌舞伎综合征（KMS）首次由日本报道,发病率约1/32 000。该疾病常伴发多种先天畸形,但目前没有明确的诊断标准。KMS主要通过5个临床表现来诊断：（1）特殊面容;（2）骨骼异常;（3）皮纹异常;（4）轻中度智力发育落后;（5）身材短小。除此之外,其他的特殊表现也有助于诊断该疾病,但是该综合征伴发先天性膈疝（CDH）较罕见。本文报道了1例12月龄KMS患儿伴发CDH和腭裂。该病例提示对于KMS患者有必要进行全面的体格检查,同时全面的麻醉管理也非常重要。