多个牙先天缺失的病例分析及临床分型

目的 对临床所见多个牙先天缺失的患者进行病例分析和临床分类总结。方法 对33例多个恒牙(≥6个)先天缺失患者进行临床检查、诊断和修复治疗，记录口腔状况、系统症状和遗传病史，进行总结分类。结果 多个牙先天缺失在临床可表现为不同类型：一是合并发育缺陷综合征的先天多个牙缺失，典型病例为无汗／少汗型外胚层发育不全(EDA)和Rieger综合征等；二是作为独立症状出现的先天多个牙缺失。结论 对临床多个牙先天缺失患者进行早期检查、正确诊断和合理的修复治疗，具有重要意义。     

锁骨颅骨发育不全综合征(CCD)1例报告

目的：分析1例锁骨颅骨发育不全综合征的典型病例。为临床正确诊断该类遗传性疾病提供临床依据。方法：对1例锁骨颅骨发育不全综合征患进行临床检查、染色体检查、并对其家族成员进行家系调查。结果：临床确诊锁骨颅骨发育不全综合征，主要临床表现为异常发育的锁骨，囟门的闭合不全，多生牙，身材矮小等一系列骨骼的改变。家系调查被诉怀疑有相关病患发生，染色体检查未见异常。结论：锁骨颅骨发育不全综合征是一种由于常染色体变异所造成的骨骼发育异常。及时正确地诊断该疾病，对于病患的进一步的正畸及修复治疗非常重要。     

掌跖角化-牙周破坏综合征临床诊断与治疗

目的：了解掌跖角化一牙周破坏综合征（PLS）临床诊断与治疗。方法：收集并调查一例掌跖角化一牙周破坏综合征病例，进行家谱分析，对其进行全口义齿修复。并对相关文献进行回顾。结果：掌跖角化一牙周破坏综合征是一种罕见的以严重牙周组织破坏及掌跖、膝盖、肘部等部位皮肤过度角化为特征的常染色体隐性遗传病，发病年龄早，最终可导致全口牙列缺失。全口义齿修复可获得较满意的效果。结论：早期发现、早期治疗对改善PLS的预后是非常重要的。     

口腔多学科综合治疗的临床探讨

目的：探讨临床口腔修复与正畸等多学科联合治疗的相关问题及治疗效果。方法：回顾性临床修复正畸联合治疗病例资料23例。男性9例，女性14例；年龄11—46岁。前牙缺失15例，后牙缺失6例，前后牙联合缺失2例。用正畸方法对缺失的牙列进行调整后，再以修复的方法完成治疗。结果：经正畸、正颌外科、牙体牙髓科、牙周科、种植科等综合治疗后，最终进行修复治疗，使患者达到更满意的疗效。结论：用修复和正畸等多学科的联合治疗，才可以应对现代人们对口腔健康和美观的更高要求。     

以Laugier-Hunziker综合征为例谈口腔黏膜色素沉着异常类疾病的鉴别诊断

口腔黏膜色素沉着异常类疾病临床上较为常见,鉴别诊断对于正确诊断和治疗十分重要。文章以1例Laugier-Hunziker综合征（LHS）病例的诊断为例,从临床表现、皮肤镜、实验室检查和病理学检查等方面着手,探讨口腔黏膜色素沉着异常类疾病的鉴别诊断,以期为临床医生提供帮助。     

3例中国牙根发育不良患儿的临床、实验室检查及分析

目的：收集、观察3例牙根发育不良患儿,探讨该疾病的实质病因。方法：采用临床、实验室检查方法对3例患儿进行详细的体检,并分析导致出现牙根发育不良表型的遗传学因素。结果：3例牙根发育不良患儿分别诊断为：病例1为一种新表型的牙根发育缺陷的低碱性磷酸酯酶症;病例2为儿童型低碱性磷酸酯酶症;病例3为一种新表型的综合征。结论：本研究发现的3种不同临床表型的牙根发育不良疾病初步认为可能是基因突变导致的遗传性疾病或发育异常疾病。     

正畸与修复结合治疗前牙缺失的临床探讨

多年来，治疗前牙缺失的方法通常是义齿修复。随着人们生活水平的提高和治疗技术的发展，正畸与修复结合治疗前牙缺失日益受到人们的重视，其优点在于，在正常牙弓形态及咬合关系基础上制作修复体效果会更好。有利于牙体牙周组织的健康，能增进口腔的功能和美观。近几年来，我们采用正畸与修复结合的方法，治疗２８例前牙缺失的患者，取得较为满意的效果。１．材料和方法 １．１临床资料：门诊口腔患者 ２８例，其中男性 １０例，女性 １８例，年龄 １３～２５岁。经拍摄全口曲面断层片检查，无其它异常，要求作义齿修复。在口腔修复科医师…     

幼儿少汗型外胚叶发育不全患者特点分析及口腔修复：5年临床跟踪研究

目的：对少汗型外胚叶发育不全（HED）患者的临床表现及幼儿患者口腔修复治疗特点进行分析。方法：对临床患者进行口腔、全身以及实验室检查，并进行家谱系遗传学调查以求明确诊断并进行口腔修复治疗。结果：诊断为少汗型外胚叶发育不全，针对口腔牙齿发育异常采取上下颌覆盖活动义齿治疗，以达到促进口腔咀嚼功能，刺激颌骨发育，减少牙槽骨吸收的目的，同时改善患者的瞻观，增强患者的治疗信心。结论：HED临床表现具有多样性，其治疗具有多学科合作治疗、早期治疗和心理辅导治疗等特点。     

常染色体显性遗传性牙龈纤维瘤病的临床和遗传学特点分析

目的：探讨遗传性牙龈纤维瘤病(HGF)的临床表型和遗传学特点。方法：先证者法收集5个HGF家系并进行问卷和口腔检查，观察不同家系及同一家系不同个体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：所有家系符合常染色体显性非综合征型HGF特征，发病年龄在牙齿萌出期，患者均有典型的牙龈增生，但不同个体其增生范围和严重程度有明显差异。龈切术可极大地恢复口腔功能和颜面外形，但部分病例在术后有复发倾向。结论：收集的5个家系均为非综合征型常染色体显性遗传HGF，且疾病外显率高，表现度变异大。     

外胚叶发育不全综合征患儿的口腔修复治疗进展

外胚叶发育不全综合征患儿因牙齿缺失伴牙槽骨发育异常,口腔咀嚼功能低下,严重影响其生长发育和心理健康.本文对外胚叶发育不全患儿的口腔修复治疗进行回顾,概述了利用可摘局部义齿和全口义齿修复的方法,详述了这类患儿行种植义齿修复的研究进展,重点比较了现有口腔修复方法对义齿固位、美观及领骨发育的影响,旨在为临床工作提供循证学依据.     

Axenfeld-Rieger syndrome: report on dental and craniofacial findings

Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by various ocular and extraocular malformations. Dental abnormalities are considered as definitive features for the diagnosis and differentiation of Rieger syndrome from other anterior chamber of the eye malformations. A case of Rieger syndrome with distinct dental and craniofacial anomalies is described. Significant cranio-dento-facial findings that have been observed are, teeth with short and dilacerated roots, hyperplastic frenums and underdeveloped maxilla. There was an anterior crossbite, bilateral posterior open-bite and moderate to severe anterior crowding.     

ARTICLE: Axenfeld–Rieger Syndrome (ARS): A review and case report

Axenfeld–Rieger syndrome (ARS) is a rare, autosomal dominant condition characterized by ocular, craniofacial, dental, and periumbilical abnormalities. Relatively little information exists on this syndrome within the dental literature despite the fact that midface hypoplasia and maxillary hypodontia are classical presenting features of this syndrome. This is a case report of a 7‐year‐old Caucasian female with ARS who presented with significant ocular and dental anomalies. She was also found to have osteopenia. Her dental condition is described, her immediate treatment is shown, and her long‐term treatment needs are discussed.     

The Rieger anomaly concomitant with multiple dental, craniofacial, and somatic midline anomalies and short stature

An unusual, isolated case of the Rieger anomaly coincident with a multitude of dental, craniofacial, and systemic anomalies is described. Significant dental findings were severe enamel hypoplasia, conical and misshapen teeth, hypodontia, and impactions. Craniofacial disorders were underdevelopment of the maxilla, mandible, and anterior and posterior cranial bases, low-set ears, and a wide nasal bridge. Reported for the first time is the association of this genetic disorder with bilateral microcondyles and bilateral choanal atresia. Embryologic disturbance of the neural crest ectoderm is suspected. The patient also manifested anal atresia, scoliosis, kyphosis, and short stature. A discussion distinguishing this case report from the Rieger syndrome is presented. In addition, the possibility that the patient exhibited a previously unreported syndrome is also considered, and the term Short-F-R-A-M-E is proposed to name this new syndrome.     

Hypodontia and nail dysplasia syndrome: Report of a case

The ectodermal dysplasias are a clinically and genetically heterogeneous group of more than 120 syndromes involving ectodermally derived structures. The syndrome that is autosomal dominantly inherited and characterized by hypodontia, dysplastic nails, and normal hair is known as hypodontia-nail dysplasia syndrome, or tooth-and-nail syndrome. Because of the minimal manifestations, this syndrome may be difficult to diagnose. Patients with hypodontia should be examined for dysplastic nails of the hands and feet and referred to medical and dental genetic specialists for verification of the diagnosis and counseling. We report a case of tooth-and-nail syndrome in a young woman.     

Axenfeld-Rieger syndrome: dentofacial manifestation and oral rehabilitation considerations

Axenfeld-Rieger syndrome is a rare genetic disorder characterized by ocular and dental abnormalities. This case demonstrates a comprehensive review of the syndrome's clinical and dental features and describes a case of a 13-year-old boy presenting with it. The patient showed severe hypodontia, microdontia, and short roots. Different treatment options are discussed. Early diagnosis and an interdisciplinary approach are necessary to provide the best short- and long-term treatment plans, as well as treatment and follow-up for individuals with the syndrome.     

Oral manifestations of the Rieger syndrome: report of case

The Rieger syndrome is a rare, autosomal dominant disorder. It is characterized by defects of the anterior chamber of the eyes as well as developmental malformations of the dentition. A case is described that shows classic findings with emphasis on dental management. Oral abnormalities in the pedigree may also suggest subtle manifestations of the syndrome. Recognition of the dental anomalies may result in early diagnosis of the syndrome and prevent progressive visual loss.     

Evidence-based orthodontics

Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant condition manifesting as a heterogeneous group of features. Of particular note are the ocular and craniofacial anomalies and dental features such as hypodontia, microdontia, taurodontism, enamel hypoplasia, conical-shaped teeth, shortened roots and delayed eruption. To treat cases with ARS effectively, a multidisciplinary approach is required, and this report describes the complex and long-term management of a case with input from Paediatric Dentistry, Orthodontics, Restorative Dentistry, Speech and Language Therapy, Oral and Maxillofacial Surgery and Radiology.     

Oral findings in Carpenter syndrome

Acrocephalopolysyndactyly Type II (Carpenter Syndrome) is determined by autosomal recessive inheritance. Only some 40 cases have been described. Variable clinical signs have been described including prolonged retention of primary teeth and hypodontia. This paper describes the oral and dental findings in a family containing two affected brothers. The family pedigree is informative, as the mother has had children by three partners. The two affected individuals are full brothers. The first affected brother has delayed dental development, severe hypodontia and small tooth crown size. Mesio-distal and bucco-lingual dimensions were measured on the study models and compared with population data. The younger brother also has delayed dental development but only mild hypodontia. Their half sister has severe hypodontia but no signs of Carpenter Syndrome. This family study demonstrates two affected individuals with typical clinical features and a pedigree compatible with autosomal recessive inheritance. Small tooth crown size has been shown by standardized measurement and evidence advanced that hypodontia is not part of the syndrome but a coincidental finding which segregates independently. We have also shown that the marked delay in emergence of teeth is associated more with problems of tooth eruption, possibly related to the bony abnormalities, than to a generalized delay in dental development.     

Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family

Rieger syndrome is one of the most serious causes of tooth agenesis. Mutations in the PITX2, FOXC1, and PAX6 genes have been associated with Rieger syndrome. We have studied a three-generation Chinese family affected with Rieger syndrome and showing prominent dental abnormalities. Mutational screening and sequence analysis of the PITX2 gene revealed a previously unidentified four-base-pair deletion of nucleotides 717-720 in exon 5 in all affected members. The mutation causes a frame shift after Thr44, the 7th amino acid of the homeo-domain, and introduces a premature stop codon in the gene sequence. This deletion is the first unquestionable loss-of-function mutation, deleting all the functionally important parts of the protein. Our novel discovery indicates that the oligodontia and other phenotypes of Rieger syndrome observed in this family are due to this PITX2 mutation, and these data further support the critical role of PIXT2 in tooth morphogenesis.     

Dental anomalies in Axenfeld-Rieger syndrome

The authors describe the case of a 10-year-old girl presenting with Axenfeld-Rieger syndrome (ARS), a rare autosomal dominant condition. The patient showed severe hypodontia, microdontia and short roots. Early diagnosis of the syndrome from its dento-facial and systemic features is important so that subsequent ocular complications may be prevented.