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。     

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。     

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。     

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.     

口-面-指综合征V型1例报告及文献复习

口-面-指综合征(oral-facial-digital syndromes,OFDS)是一类主要表现为口腔颌面部畸形、骨骼畸形或伴有肾脏、神经系统等多系统畸形的先天性综合征,目前依据临床表现分为13种类型。本文报告1例V型病例,并复习最新分型及分子诊断进展。     

外胚层发育不全综合征患者的口腔种植修复策略

外胚层发育不全综合征（ectodermal dysplasia,ED）是一类由胚胎外胚层发育而来的组织和结构发生的一种遗传性系统性疾病的统称,口腔疾病主要表现为牙齿发育不全或者是先天性牙齿缺失、牙齿形态异常、颌面部发育畸形等。近年来,由于能提供更好的稳定性和舒适度,口腔种植修复逐渐成为ED患者的理想选择。但患者年龄小、骨量缺失和骨性Ⅲ类错牙合畸形给种植修复带来很大的困难。文章就ED患者种植修复的难点做一综述,旨在为临床中的决策做参考。     

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。     

腮腺成涎细胞瘤1例报告及文献复习

成涎细胞瘤为发生于大唾液腺的先天性肿瘤,临床罕见,主要发生在腮腺,极少数发生在下颌下腺。由于其临床特点和影像学表现缺乏特异性,正确诊断常较困难。该肿瘤有局部浸润、侵袭和复发甚至淋巴结扩散和远处转移的可能,但淋巴结及远处转移较少发生,故治疗方法一般为手术完整切除,很少采用放化疗。儿童期且局限的成涎细胞瘤预后一般较好。本文报告1例腮腺成涎细胞瘤病例,并结合文献对其临床和病理特点、诊断、治疗及预后等进行讨论。     

McCune-Albright综合征伴甲状腺功能亢进1例报告及文献复习

McCune-Albright综合征（MAS）是一种临床罕见的疾病,其典型三联征包括多骨性骨纤维异常增殖症、牛奶咖啡色斑及性早熟。本文报告1例伴有甲状腺功能亢进的McCune-Albright综合征患者,并通过相关文献复习,阐述MAS的病因、临床表现、诊断及治疗等。     

Diagnostic criteria in Pai syndrome: results of a case series and a literature review

Pai syndrome was originally described as the association of a midline cleft lip, midline facial polyps, and lipoma of the central nervous system. However, only a few patients present with the full triad, and most exhibit a wide spectrum of phenotypic variability. The aim of this study was to phenotypically delineate Pai syndrome and to propose new criteria to facilitate a clinical diagnosis in the future. The study cohort consisted of seven case patients and an additional 60 cases diagnosed with Pai syndrome identified in a literature review. Only 23 of 67 patients presented the full triad as historically described by Pai et al. (1987). A congenital facial midline skin mass was always encountered, particularly affecting the nasal structures (60/67). A midline facial cleft was reported in 45 of 67 patients and a pericallosal lipoma in 42 of 67 patients. The proposed definition of Pai syndrome is the association of (1) a congenital nasal and/or mediofrontal skin mass and/or a mid-anterior alveolar process polyp as a mandatory criterion, and at least one of the following criteria: (2) midline cleft lip and/or midline alveolar cleft, and/or (3) a pericallosal lipoma or interhemispheric lipoma in the case of corpus callosum dysgenesis.     

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.     

Kabuki syndrome: a case report

Abstract

This article reports the case of an 8-year-old female with Kabuki syndrome and the oral/dental implications of this syndrome, namely hypodontia with interdental spacing, abnormal tooth morphology, malocclusion and a defect in the anterior midline of the palate. The oral findings will aid the clinician in diagnosing this syndrome, which was once thought to be seen exclusively in the Japanese population.     

先天缺指(趾)-外胚叶发育不良-唇/腭裂综合征的病例研究

目的：探讨先天缺指（趾）-外胚叶发育不良-唇／腭裂综合征（EEC）的临床表型和遗传学特点。方法：收集具有典型症状的EEC病例并进行家系问卷和口腔检查,观察各家系患者的临床表型和发病特点,分析可能的遗传方式,绘制系谱图。结果：研究收集的2个EEC病例均未追溯到明显家族遗传史,患者均表现出明显的双侧多个缺指（趾）,并指,唇／腭裂,家系2患者有毛发稀疏,指甲无光泽等明显外胚层发育不良表型,符合典型的EEC综合征。2名不同患者的严重程度存在明显差异。结论：收集的2个患者均属典型的散发EEC病例,临床的早期检查和正确诊断对后期治疗具有重要意义。     

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.