先天性缺指(趾)-外胚叶发育不全-唇/腭裂综合征的临床和遗传学特点

目前,以先天性缺指(趾)、并指(趾)或手足裂和外胚叶发育不全伴或不伴腭裂的唇裂为主要临床表现的先天性缺指(趾)-外胚叶发育不全-唇/腭裂(EEC)综合征的病因仍然不明,给疾病的防治带来了较大的困难.迄今为止,分子遗传学研究已定位了EEC综合征的3个基因座,克隆到1个致病基因.EEC综合征临床表现复杂,外显率和表现度在人群中差异较大,临床上还存在一系列症状相似的EEC类似综合征,不易鉴别.本文剖析EEC综合征的临床和遗传学特点,将有利于临床医师进行诊断和鉴别诊断,并为下一步病因学研究提供帮助.     

口腔颌面部整复

下颌骨部分缺损的修复研究；单侧唇裂整复同期矫治鼻畸形；先天缺指（趾）-外胚叶发育不良-唇／腭裂综合征的病例研究；组织工程骨修复犬下颌骨节段性缺损的组织形态学观察；犬牙槽骨牵张成骨时牙齿移动速度与移动方式的研究     

干扰素调节因子6基因致病的Van der Woude综合征的家系调查和遗传特点分析

目的 探讨中国人Van der Woude综合征（VWS）的临床表型及遗传学特点。方法 先证者法收集14个VWS家系并进行口腔专科检查、家系调查及基因突变分析,分析不同VWS家系个体或同一家系不同个体的临床表型,绘制家系图谱,明确遗传方式及致病基因,计算表型分布频率和表型基因频率。结果 VWS家系基本符合常染色体显性遗传特征,患者多数表现为典型的VWS,致病基因为干扰素调节因子6（IRF6）。VWS表型分布频率为：唇瘘91.9%,唇腭裂73.0%,牙畸形8.1%。不同家系个体和同一家系的不同个体临床表型存在明显差异。结论 收集的家系均为常染色体显性遗传,表现度变异大。中国人群VWS致病基因为IRF6,为Ⅰ型VWS。     

中国汉族不伴唇腭裂的缺指(趾)-外胚层发育异常-唇腭裂综合征TP63基因的杂合性突变一例

目的 研究不伴唇腭裂表现的缺指(趾)-外胚层发育异常-唇腭裂(ectrodactylyectodermal dysplasia clefting,EEC)综合征1例患者的TP63基因突变,探讨该病基因型与表型的关系.方法 利用DNA单链构象多态性实验对1个中国汉族不伴唇腭裂表现的EEC综合征核心家系进行突变初筛,聚合酶链反应扩增目的 基因片段,直接测序进行突变检测,以200名无先天性缺牙的健康者作为对照.结果 在患者TP63基因第7外显子cDNA838位存在C＞T的单碱基杂合性点突变,使其编码的第280位精氨酸替换为半胱氨酸(Arg280Cys,R280C).患者父母在该位点均显示正常的野生基因型.结论 TP63基因的单碱基杂合性突变(Arg280Cys,R280C)是引起该患者EEC综合征的致病原因,此突变为新生突变.     

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。     

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。     

1433例唇腭裂患者临床资料分析

目的：分析先天性唇腭裂的发病情况及特点,为唇腭裂的预防提供临床资料。方法：对1433例先天性唇腭裂患者进行回顾性临床分析。结果：本组病例中,唇裂390例,唇裂伴腭裂794例,单纯腭裂249例;男性明显多于女性（2.35：1）,但在不完全性腭裂中,女性多于男性（1：0.87）;在单侧唇裂伴或不伴腭裂及完全腭裂中,左侧明显多于右侧（3.58：1）;有家族遗传史的病例占总病例的6.35%;母亲妊娠初期经历危险因素316例,占22.05%;85.97%的患者来自农村;唇腭裂伴发其他畸型者42例,占2.93%。结论：多基因遗传与胚胎发育早期的环境因素是唇腭裂发病的重要因素。     

Van der Woude综合征的下唇瘘治疗

目的：通过对Van der Woude综合征（VWS）的主要临床表现一下唇瘘的研究，总结其主要治疗方法。方法：收集沈阳市2000—2012年共9例VwS患者，对其主要临床表现及治疗方法进行统计。结果：9例下唇瘘的临床表现中4例伴有左侧唇、腭裂，4例伴有双侧唇、腭裂；经过手术治疗所有VWS患者的颌面畸形都得到了有效的纠正。结论：VWS是常染色体显性遗传病，其临床表现以下唇瘘为主，并常伴有唇、腭裂的发生。对该综合征的治疗手段应以纠正其颌面畸形的外科手术为主。     

3个中国无汗型外胚叶发育不全家系遗传及临床特点分析

目的：探讨中国无汗型外胚叶发育不全家系（HED）的遗传方式和临床表型特点。方法：采用临床检查和家系调查的方法,对通过先证者法收集的3个HED家系进行遗传方式和临床表现分析。结果：两个家系为X连锁隐性遗传,另一个家系遗传方式不能确定。男性患者临床表现典型,女性携带者有轻中度临床表现或无症状,家系间严重程度不一致,表现度差异大。结论：HED外显率高,表现度差异大,具有明显的遗传异质性。     

染色体10q25位点多态性与中国非综合征性唇腭裂的关联研究

目的:研究染色体10q25上2个单核苷酸多态性(single nucleotide polymorphisms,SNP)位点rs7078160、rs4752028与中国人群非综合征性唇腭裂(non-syndromic cleft lip with or without cleft palate,NSCL/P)发病的相关性。方法:收集180例NSCL/P患者作为病例组,并按照表型分为单纯唇裂组、唇腭裂组、单纯腭裂组,将单纯唇裂组和单纯腭裂组合并为唇/腭裂组;选取360名健康人作为对照组。采集病例组和对照组的外周血血样并提取DNA。对上述2个SNP设计引物,PCR扩增其序列,通过二代测序进行基因型分型。利用SPSS19.0软件包中的χ2检验对病例组与对照组的基因型以及等位基因频率进行分析。结果:rs7078160的等位基因频率在唇/腭裂组与对照组中的差异最为显著(P=0.008,OR=1.500,95%CI=1.116~2.016),rs4752028位点的等位基因频率在唇/腭裂组和对照组间亦存在显著差异(P=0.028,OR=1.424,95%CI=1.041~1.948)。结论:染色体10q25区域的rs7078160和rs4752028位点与中国人群非综合征性唇腭裂的发病相关。     

Ectrodactyly‐ectodermal dysplasia‐clefting syndrome: the oral hygiene management of a patient with EEC

Ectrodactyly‐ectodermal dysplasia‐clefting syndrome (EEC) is a rare genetic disorder. EEC was first described in 1970 and occurs in 7 of 10,000 people. This paper discusses the effects of EEC and the dental complications typically associated with this syndrome. It is important for dental practitioners to be aware of EEC due to the number of dental conditions associated with it. A case report is presented to discuss the dental management, especially issues related to oral hygiene, of a patient who had EEC.     

Van der Woude syndrome: clinical presentation in 64 patients.

OBJECTIVE: Van der Woude syndrome, characterized by lip pits and cleft lip/ palate, presents with variable expressions. This retrospective study was designed to obtain a better understanding of its clinical pattern in Taiwanese patients. MATERIALS AND METHODS: Of 13,147 cleft patients treated at the Chang Gung Craniofacial Center from 1976 to 2004, there were 64 with Van der Woude syndrome. Clinical expressions and family histories were collected and analyzed. RESULTS: The male to female ratio was 1:1. The majority had complete cleft types. Severe cleft was found among the patients, with 52% having bilateral cleft lip and palate, 31% having unilateral cleft lip and palate, and 17% having isolated cleft palate. A positive family history was found in 53.1% of the patients. The size, shape, location, and depth of the pits varied among patients. CONCLUSION: Clinical presentations did not always parallel those reported in the literatures. These differences warrant further investigation.     

EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting): a clinical case report

The EEC syndrome (ectrodactyly-ectodermal dysplasia -clefting) is defined as a multiple congenital anomaly syndrome characterized by ectodermal dysplasia, distal limb anomaly, cleft lip/palate, and lacrimal duct anomalies. This case report reviews and presents clinical symptoms and treatment of the EEC syndrome.     

一个范德伍德综合征家系的IRF6基因突变检测

目的:对收集的1个湖北Van der Woude综合征(VWS)家系进行临床和遗传特点分析,并进行IRF6基因的突变检测。方法:通过先证者及现场家系调查、临床检查和系谱分析收集VWS家系。在IRF6基因的外显子-内含子接头及9个外显子编码区分别设计引物,经聚合酶链式反应扩增并纯化后直接测序。结果:收集的VWS家系符合常染色体显性遗传特征,家系受累患者共3名(1名男性和2名女性),患者表现为典型的下唇瘘管或凹陷,且合并有唇腭裂和先天缺牙。患者表型在同一家系内有明显差异,且呈逐代加重趋势。在所有患者IRF6基因第412位密码子发现与表型一致的CGA>TGA(c.1234C>T)改变,经查证为一个已知的无义突变。结论:该VWS家系疾病表现度极不一致,是由IRF6基因的1个已知无义突变导致,IRF6是参与颌面部发育的重要基因。     

EEC syndrome--a case report

EEC syndrome is a multiple congenital anomaly syndrome characterized by ectodermal dysplasia, distal limb anomaly, cleft lip and palate and ocular adnexia anomalies. A case report of a 10 year old female patient with EEC is presented and it is emphasised that management of these cases requires a multidisciplinary approach. Early diagnosis will allow parents to get accurate counseling and in particular obtain reassurance regarding the low risk of mental handicap.     

A case of EEC (ectrodactyly, ectodermal dysplasia, and cleft lip) syndrome]

EEC syndrome is a rare congenital malformation characterized by ectrodactyly, ectodermal dysplasia, cleft lip and/or palate. We reported a case of EEC syndrome with cleft palate. The patient was a 15-month-old girl. She had split hands of the upper extremities, syndactyly and polydactyly of the right lower extremity, ectodermal dysplasia including sparse hair, enamel hypoplasia and cleft palate. The patient underwent palatoplasty at the age of 18 months.     

Incomplete EEC syndrome in a patient with mosaic monosomy 21.

Chromosome anomalies in cases of ectrodactyly, ectodermal dysplasia and cleft of the lip and palate (EEC syndrome) have now been reported. We now report a child with the above syndrome and mosaic monosomy of chromosome 21.     

Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations.

OBJECTIVE: To describe the largest family reported with the lacrimoauriculodentodigital (LADD) syndrome. DESIGN: A family study of eight individuals with LADD syndrome. SETTING: Pediatric Clinical Research Center at Oakland Children's Hospital. PATIENTS: Eight individuals in a four-generation family. MAIN OUTCOME MEASURE: A diagnosis of LADD syndrome was determined by the presence of one or more of the characteristic lacrimal duct, auricular, dental, or digital malformations. Tear function and orofacial clefting were also considered in the final diagnosis of LADD syndrome. RESULTS: Affected family members had the characteristic features of LADD syndrome, including cup-shaped ears; lacrimal duct obstruction; and dental, forearm, and digit malformations. In addition to the cardinal features of LADD syndrome, the proband was born with cleft lip and palate. The mother and sister of the proband have hydronephrosis, a rare feature of the disorder. Family members also have features not previously described in LADD syndrome, including vesicoureteral reflux, recurrent urinary tract infections, camptodactyly, distal thumb symphalangism, and a bicornuate uterus. CONCLUSIONS: The findings suggest that the presence of vesicoureteral reflux and recurrent urinary tract infections should be evaluated in LADD syndrome patients and that the distinction of LADD syndrome from ectrodactyly-ectodermal dysplasia and clefting syndrome by the absence of clefting may need to be reconsidered.