双胞胎遗传性乳光牙本质1例及家系调查

目的分析双胞胎姐妹遗传性乳光牙本质的临床表现及探讨修复治疗。方法征询调查1例双胞胎姐妹遗传性乳光牙本质家系患病情况。结果追溯双胞胎姐妹遗传性乳光牙本质4代家系,共20人,男8人,女12人,其家系中共有7人罹患遗传性乳光牙本质。结论双胞胎姐妹同时罹患遗传性乳光牙本质者未见报道,对家族性遗传性疾病具有一定的临床研究价值。     

牙体硬组织发育不全相关基因研究进展

近年来的研究表明遗传性釉质发育不全与成釉蛋白及釉蛋白基因突变有关,遗传性牙本质发育不全与牙本质涎磷蛋白基因突变有关。本文拟就遗传性牙体硬组织发育不全包括牙釉质发育不全和牙本质发育不全的相关基因研究作一综述。     

遗传性乳光牙本质病例追踪报告

目的分析遗传性乳光牙木质的特殊临床表现并讨论并讨论发病机制。方法追踪报告1例患儿遗传性乳光牙本质家系，结合相关文献复习。结果本例幼儿属症状较重的遗传性乳光牙本质，其家系中共有7人罹忠遗传性乳光牙本本质。结论遗传性乳光牙本质低龄患者不可姑息观察，应积极对症治疗与综合预防。     

遗传性乳光牙本质系谱调查及修复治疗1例

遗传性乳光牙本质是一种牙本质发育异常的常染色体显性遗传病,发病率低。本文报道1例遗传性乳光牙本质患者的家系调查及修复治疗,并探讨该病的发病机制和治疗方法。     

牙体硬组织发育不全相关基因研究进展

近年来的研究表明遗传性釉质发育不全与成釉蛋白及釉蛋白基因突变有关，遗传性牙本质发育不全与牙本质涎磷蛋白基因突变有关。本文拟就遗传性牙体硬组织发育不全包括牙釉质发育不全和牙本质发育不全的相关基因研究作一综述。     

一例遗传性乳光牙本质的治疗及家系调查

目的：探讨遗传性乳光牙本质治疗修复的特殊性、可行性及操作中应注意的问题。方法：通过对1例遗传性乳光牙本质患者的家系调查,治疗修复及双颌的咬合重建,恢复患者的最适颌位,并随访观察疗效。结果：遗传性乳光牙本质家系中涉及4代9人患病。对先证者进行治疗,并经6年临床随诊观察,患者对修复体较满意。结论：遗传性乳光牙本质患者采用多种治疗修复方法可恢复牙齿美观及咀嚼功能。     

牙本质发育不全1例

发生于牙本质的发育异常主要有两大类,一类为牙本质发育不全(dentinogenesis imperfecta DGI),另一类为牙本质发育异常症或者牙本质生成不全(dentin dysplasia DD).以牙冠变色磨耗及髓腔改变为主要特征[1].牙本质发育不全分为三型:即牙本质发育不全Ⅰ型(DGI-Ⅰ);牙本质发育不全Ⅱ型(DGI-Ⅱ)又称遗传性乳光牙本质;牙本质发育不全Ⅲ型(DGI-Ⅲ).笔者遇到一例遗传性乳光牙本质,现报道如下.     

遗传性乳光牙本质1例报告

遗传性乳光牙本质１例报告遗传性乳光牙本质,又称为遗传性牙本质发育不全,临床较少见。笔者在临床上遇到１例,其家族中４代有９例患者,特报告如下：患者李××,女性,４岁。牙黄不能咀嚼硬食来我院就诊。患者足月顺产,既往无其它疾病。家族史：据患者母亲及大爷诉,...     

遗传性乳光牙本质病的家系调查及修复方法

目的:了解遗传性乳光牙本质(又名牙本质发育不全Ⅱ型,DGI-Ⅱ)的遗传特征,探讨其治疗方法。方法:调查在上海发现的1例遗传性乳光牙本质患者的家系成员,进行系谱分析。对先证者作金瓷修复体治疗,并调查该家系受累者的修复情况。结果:该遗传性乳光牙本质家系中,患者连续5代出现,子代患病率接近50%。该家系子代义齿修复率90%,修复方式包括金瓷修复体和可摘局部义齿,以金瓷修复体为主,修复后美观和咀嚼功能良好。结论:遗传性乳光牙本质家系发病率高,金瓷修复体能达到预防牙体磨损和崩裂、恢复美观和咀嚼功能的效果。     

乳光牙

乳光牙即遗传性乳光牙本质(hereditary opalescent dentin),因具有遗传性,牙齿外观都有一种特殊的半透明或乳光色彩而得名。组织学上以牙本质发育异常为特征又     

An unusual presentation of opalescent dentin and Brandywine isolate hereditary opalescent dentin in an Ashkenazic Jewish family

Two children of Austrian Ashkenazic Jewish background, related as second cousins, have a variant of opalescent dentin in their deciduous teeth. This has been classified by Witkop as Brandywine isolate hereditary opalescent dentin and by Shields as dentinogenesis imperfecta type III. One of the children also has dysmorphic facial features, seizures, and severe mental retardation. Her mother has dysmorphic facial features and mild mental retardation. The mothers of both children and several other family members have classic opalescent dentin (dentinogenesis imperfecta type II). Radiographs of the deciduous and permanent dentitions of one mother showed obliterated pulp chambers. Confirmation of obliterated pulp chambers in the deciduous teeth of the mother of a child with Brandywine isolate hereditary opalescent dentin makes it unlikely that classic opalescent dentin and Brandywine isolate hereditary opalescent dentin are separate genetic disorders. Evidence from this family supports the hypothesis that Brandywine isolate hereditary opalescent dentin is a variant of opalescent dentin.     

Intravenous tranexamic acid in the management of hereditary angio-oedema

The pathogenesis and management of hereditary angio-oedema is discussed. The use of intravenous tranexamic acid to provide short term prophylactic cover for patients with hereditary angio-oedema undergoing oral surgery is presented.     

重视和加强对口腔遗传性疾病的研究

There are many kinds of oral hereditary diseases. Although some attempts have been tried to find the genetics of those diseases,still fewer information are available than the other hereditary diseases at present. Much is needed to do in the future. This article reviewed some cutting-edge findings on the genetics of several oral hereditary diseases,including hereditary diseases involving the teeth, periodontal tissues, soft and hard tissues of the oral and maxillofacial region, as well as cleft lip and palate.     

一个中国汉族遗传性出血性毛细血管扩张症家系致病基因的定位研究

目的定位一个中国汉族遗传性出血性毛细血管扩张症家系的致病基因。方法选择基因ALK-1及endoglin作为该HHT家系致病基因的候选基因，在候选基因染色体区域进行定位。结果连锁分析结果发现ALK-1染色体区域微卫星遗传标记D12s1586LODZMAX为1．82，D12s1677LODZMAX为1．74，D12s1635LODZMAX为1．65，D12s368 LODZMAX为1．87，支持连锁。构建单体型发现家系内所有患者在ALK-1染色体区域都连锁，无交换重组现象。而endoglin染色体区域微卫星遗传标记连锁分析结果不支持连锁。结论这个中国汉族HHT家系的致病基因定位在ALK-1染色体区域。     

Study on abnormalities in the appearance of finger and palm prints in children with cleft lip, alveolus, and palate

The aetiology of abnormalities in the appearance of finger and palm prints in children with cleft lip, alveolus, and palate was examined by comparing the frequencies of abnormalities in hereditary cases and sporadic cases, and those in hereditary cases with those in their parents. The following results were obtained: Comparison of hereditary cases and sporadic cases. Abnormalities in the appearance of finger and palm prints were greater in hereditary cases than in sporadic cases. Abnormalities in the appearance of finger and palm prints were greater in parents of hereditary cases than in parents of sporadic cases. The rate of agreement in the appearance of finger and palm prints between parents and children was greater in hereditary cases than in sporadic cases. Comparison within hereditary cases. Abnormalities in the appearance of finger and palm prints were greater in affected children when one of the parents was affected (gamma = 1/2) than when both parents were normal (gamma = less than 1/2). Abnormalities in the appearance of finger and palm prints were greater in parents, one of whom was affected, than in normal parents. The rate of agreement in the appearance of finger and palm prints of parents, one of whom was affected, and their gamma = 1/2 children cases was higher than of normal parents and their gamma = less than 1/2 children. It was concluded that the above results could be explained by multifactorial inheritance.     

Hereditary pathology of the enamel and dentin. A review of molecular genetic research

Mapped phenotype of imperfect amelogenesis, type II imperfect dentinogenesis, hereditary opalescent dentin, Capdepont's dysplasia, and type II dentin dysplasia is described for the first time in Russia. Classification of hereditary disorders in dentin development is presented.     

遗传性乳光牙本质的固定修复体会

目的：探讨遗传性乳光牙本质固定修复的可行性、操作要领及临床疗效。方法：本文有3例遗传性乳光牙本质患者进行了固定修复并行双颌的咬合重建，恢复到患者的最适颌位，随访观察疗效。结果：临床检查结果显示，半年后有3颗基牙的龈缘探诊出血；1年后有1颗烤瓷冠崩瓷；3例患者均对修复体满意。结论：遗传性乳光牙本质的固定修复是可行的，但患者的牙齿抗折裂性仍需进一步临床观察，双颌的咬合重建规范仍需完善。     

Acid-etch repair of hereditary type 4 enamel hypoplasia.

Defects of the enamel include hypoplasia and hypomineralization. The cause can be local, systemic, or hereditary. A 14-year-old boy had type 4 hereditary hypoplastic enamel. The Nuva-Seal, Nuva-Fil acid-etch technique was used to restore the defect.     

Hereditary hemorrhagic telangiectasia with florid osseous dysplasia: Report of a case with differential diagnostic considerations

The clinical presentation of hereditary hemorrhagic telangiectasia with various manifestations has been well described as has florid osseous dysplasia. There have been no cases reported of the two pathologic entities in the same patient. We present a case with the simultaneous occurrence of hereditary hemorrhagic telangiectasia and florid osseous dysplasia with important considerations for differential diagnosis, and we discuss whether this case presents a potential syndrome.