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。     

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.     

无汗型外胚叶发育不全1例

先天性无牙症是先天完全无牙或大多数牙齿先天缺失,常是外胚叶发育不全综合征的一种表现.外胚叶发育不全综合征是一类遗传性疾病,表现为牙齿先天缺失、毛发稀疏和皮肤异常等多种症状.本病分为2类:一类为无汗型外胚叶发育不全(EDA)或称少汗型外胚叶发育不全,另一类为有汗型外胚叶发育不全.除了牙齿、毛发、皮肤等结构异常外,EDA患...     

外胚叶发育不全缺牙症的修复

先天性外胚叶发育不全缺牙症是一种比较罕见的先天性外胚叶发育异常疾患,具有遗传特征。因为这类病人缺牙的数目和部位差异较大,所以在修复设计时应该灵活掌握。笔者对一例外胚叶发育不全缺牙症的患者,根据缺牙情况,上颌采用覆盖总义齿,下颌采用总义齿修复。临床观察半年表明,义齿在固位和功能恢复方面都取得了比较满意的效果。     

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     

非综合征型先天性多数牙缺失1例

先天性牙齿缺失是牙齿数目异常的一种,分为个别、多数和全部牙齿先天缺失。多数牙先天缺失常为综合征的表现之一或为一种独立的疾病,较为少见。伴有先天缺牙的综合征以Rieger综合征、外胚叶发育不全、EEC综合征等常见。病因不明,通常认为是环境因素和遗传因素参与,以遗传因素为主。有研究认为,成对盒基因9(PAX9)和肌节同源盒基因1(MSX1)分别与前磨牙、磨牙的缺失有关。多数牙齿先天缺失可造成错畸形,治疗时需全面诊断,多学科咨询以利于确定长期治疗的目标。     

口-面-指综合征Ⅰ型伴先天性心脑发育不全1例报道

口面指综合征(Oral-facial-digital syndrome,OFD综合征)是一种少见的先天性畸形疾病,以口、面及指(趾)等的发育障碍为其三大特征。本例报告了OFDⅠ型伴唇腭裂、牙齿畸形、短指畸形、先天性心脑发育不全1例,结合文献回顾,对其相关病因及治疗进行总结,为临床诊治提供参考。     

范德伍综合征遗传学研究进展

由常染色体异质性显性遗传所引起的先天性下唇瘘复合颌面部软硬组织发育畸形，也称范德伍综合征。其主要临床特征为家族性下唇瘘以及唇裂和（或）腭裂。随着分子生物学的发展，该综合征的病因研究日益增多，本文就其临床表现、诊断与治疗，特别是遗传学研究作综述。     

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。     

外胚叶发育不全综合征患者口腔修复策略的研究进展

外胚叶发育不全综合征是一种临床表现为毛发、指甲、牙齿、汗腺等外胚叶组织发育欠缺的先天性遗传性疾病。患者的口腔常表现为先天性无牙或少牙,且余留牙外形不良,颌骨常发育不良,牙槽嵴低平,对患者口腔功能、美观与心理健康造成严重的损害,同时,该类患者通常就诊年龄小,配合程度差,对其进行口腔修复是一项高难度的、多学科参与的治疗方式,其修复策略主要包括生长发育期的修复及发育完成后的成人期修复,任何不当的方式都可能产生不良影响。本文对外胚叶发育不全综合征患者口腔修复策略的研究进展作一综述,旨在为临床医生制定口腔修复方案提供参考。     

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.     

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.     

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.     

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 malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians).

A case is described which, at birth, had a bizarre pattern of hypopigmentation (incontinentia pigmenti achromians), ectrodactyly involving all four extremities, and unilateral cleft lip and palate. This patient does not have the seizures or other neurological and developmental anomalies previously described as associated with hypopigmentation of Ito. This condition is also clearly different from the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC).     

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.     

Cleft lip and palate repair in Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome.

Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome is a rare autosomal dominant disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. Mutations in the p63 gene recently have been shown to be etiologic in the majority of cases of ankyloblepharon-ectodermal dysplasia-clefting syndrome. To date, there have been no reports to document wound healing after cleft lip and/or palate repair in ankyloblepharon-ectodermal dysplasia-clefting patients. We describe two patients with ankyloblepharon-ectodermal dysplasia-clefting syndrome and provide a review of the literature. There have been no reported instances of wound healing complications in affected patients. Seventeen percent (3/18) of reported patients required revisions or repair of oronasal fistulae. Cleft lip and palate repair can be performed safely in patients with Hay-Wells syndrome.     

Osseointegrated implants in the oral rehabilitation of a patient with cleft lip and palate and ectodermal dysplasia: a case report

Hereditary ectodermal dysplasia is an inherited disorder characterized by aplasia or dysplasia of ectodermal tissues, such as hair, nails, teeth, and skin, that occurs in approximately 1 in every 100,000 live births. Dental abnormalities and abnormal facial appearance are of major concern in childhood and adolescence, since they can restrict the individual socially and affect his or her self-confidence. Oral rehabilitation in the early stages of the patient's life may provide functional and esthetic restoration as well as safeguard psychologic health. This report presents the clinical procedures involved in the rehabilitation of a 10-year-old female patient with complete bilateral cleft lip and palate and ectodermal dysplasia.