颅骨-锁骨发育不全综合征在曲面体层片上的影像特点

目的 分析颅骨-锁骨发育不全综合征在曲面体层片上的特征性表现。方法 颅骨-锁骨发育不全综合征18例，在曲面体层片上观察牙，颌骨及颧弓等发育情况。对7例进行了随访观察。结果 （1）牙发育异常；乳牙滞留（14/18），恒牙迟萌（16/18），牙发育畸形（11/18），多生牙及阻生牙（各18/18），含牙囊肿形成（5/18）及继生多生牙（4/7）；（2）颌面骨发育异常；牙槽骨致密（9/18），骨小梁粗糙（18/18），升支前后继呈平行（14/18），喙突尖小（12/18）及颧弓下弯畸形（18/18）。结论 （1）建议用骨-牙发育异常综合征命名较妥；（2）只需一张曲面体层片即可对本病作出正确诊断；（3）因本病进行正畸治疗应定期曲面体层片随访，以便早发现继生多生牙，早处理。     

家族性颅骨锁骨发育不全综合征患者的临床及影像学特征分析鄢

目的：研究家族性颅骨锁骨发育不全综合征患者的临床及影像学特征,为临床诊断提供依据。方法：对1例家系患者进行颅颌面及全身骨骼检查,拍摄全景片、头颅侧位片、胸部正位片、手及足正位片,分析患者的颅面部及全身骨骼特征。结果：该家族性颅骨锁骨发育不全综合征患者表现为前额突出,面中部发育不足,鼻背塌陷,眼距增宽,食指中节指骨发育不良,远节指骨过短,跖骨轻度弯曲。口内表现为多数乳牙滞留,恒牙迟萌、多生牙、错牙合。结论：分析颅骨锁骨发育不全综合征患者的临床及影像学特征有助于临床医生及时准确的诊断和治疗。     

颅锁骨发育不全综合征的X线特征分析

目的:分析总结43例颅锁骨发育不全综合征病例的临床及X线表现。方法:在国内数据库中对颅锁骨发育不全综合征的病例报道进行检索,并结合本院确诊的4例典型病例,对该病的临床表现、X线特征总结分析。结果:颅锁骨发育不全综合征中男/女约1.6∶1;中位年龄17.6岁;牙、颌面畸形发生率达88%;全身其他部位受累发生率达95.3%。主要的牙、颌面畸形X线特征是部分乳牙滞留,恒牙萌出迟缓或不发育并伴有含牙囊肿。上颌骨及颧骨多发育不足及下颌骨正常发育而形成反面型;其它全身部位受累主要表现在指、跖关节的畸形。结论:颅锁骨发育不全综合征好发年轻男性;牙颌面畸形、锁骨发育不全、"钟形"胸、跗跖关节外移畸形、耻骨联合增宽等是诊断颅锁骨发育不全综合征的主要X线特征,骨盘畸形、掌指及跖趾关节的畸形是诊断该病重要的辅助X线特征。     

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。     

颅骨锁骨发育不全综合征的特征分析

目的:分析来自不同家族的骨锁骨发育不全综合征的发病特点.方法:对颅骨锁骨发育不全综合征患者进行体检,建立病历,摄片,分析牙、颌面及影像特点.结果:患者表现不同程度的颅骨、牙齿、锁骨发育障碍.结论:分析颅骨锁骨发育不全综合征的临床及影像特点有助于临床诊断及制定治疗方案.     

锁骨颅骨发育不全综合征(CCD)1例

颅骨锁骨发育不全综合征(cleidocranial dysplasia,CCD),是一种先天性全身骨骼发育不全性疾病,常为遗传性疾病,其主要临床特征是全身多发性骨骼发育畸形及面、牙的发育异常[1].关于锁骨发育异常的报道最早可追溯到1765年,本文就近期就诊的1名CCD患者进行个例报道,为广西地区首次报道该类疾病.     

颅骨锁骨发育不全综合征患者的正畸治疗初探

目的：分析颅骨锁骨发育不全综合征患者的颅面异常表现,并对其进行正畸治疗．探讨该痫的临床诊断、正畸治疗方法。方法：例CCD患者．运川双循序渐进法,即先后运用活动矫治器、固定矫治器,分批次外科于手术窗、拔除多生牙和形态异常牙齿,每次牵引2颗或3颗埋伏的恒牙。结果：2例CCD患者埋伏牙牵引矫治至正常位．面型改善;2例正治疗中。结论：双循序渐进法足矫正CCD患者的牙颌畸形有效方法。     

先天性外胚层发育不全综合征2例

先天性外胚层发育不全综合征２例杨宗范长沙国防科技大学医院（４１００７３）外胚层发育不全综合征（Ｅｃｔｏｄｅｒｍａｌｄｙｓｐｌａｓｉａｓｙｎｄｒｏｍｅ）是以先天性牙胚发育异常乃至无牙畸形为主要临床特征，伴有汗腺、毛发等其他９胚层衍生组织发育异常的遗传性...     

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。     

颅锁骨发育不全综合征患者下颌骨喙突异常2例

颅锁骨发育不全综合征(cleidocranial dysplasia, CCD)是一种罕见遗传病,临床表现常为颅骨、锁骨、牙齿发育不全,较少出现下颌骨喙突异常,本文报道2例CCD患者喙突伸长,且1例患者存在RUNX2基因突变(NM＿001024630:exon5:c.586＿587del AG),为新突变。     

Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2 : possible involvement of non-genetic or epigenetic regulation

INTRODUCTION: Cleidocranial dysplasia (CCD, MIM #119600) is an autosomal-dominant disorder characterized by hypoplasia or aplasia of clavicles, patent fontanelles and short stature. The responsible gene has been identified as RUNX2. CCD is also accompanied by characteristic dental abnormalities, e.g. supernumerary teeth, delayed eruption and impaction of permanent teeth. Intrafamilial variations of skeletal abnormalities are reported but those of dental abnormalities are obscure. To clarify this point, a precise examination of the dental features of CCD siblings having identical mutation was performed. DESIGN: Gene mutational analysis of three Japanese CCD siblings and their father was performed. Skeletal and dental characteristics were examined by the inquiry and radiographs. RESULTS: Three siblings uniformly showed patent fontanelles and short stature. They and their father had a novel missense mutation in the RUNT-domain (P210S) of RUNX2. The siblings were completely discordant for the dental characteristics with the position and number of supernumerary teeth being completely different. The youngest, a 12-year-old boy, had six supernumerary teeth, which appeared symmetrically around the maxillary canines and mandibular premolars. The second, a 15-year-old girl, had four supernumerary teeth which appeared around the mandibular incisors. The oldest, a 17-year-old boy, had 11 supernumerary teeth, which were symmetrically around the mandibular lateral dentition and asymmetrically around the maxillary incisors and premolars. CONCLUSION: The present study suggests the involvement of non-genetic or epigenetic regulation in supernumerary tooth formation in CCD.     

Characterization of dental phenotype in patients with cleidocranial dysplasia using longitudinal data

Objective:To investigate the characteristics of the dental phenotype in patients with cleidocranial dysplasia (CCD) using longitudinal data.Materials and Methods:Twelve unrelated Korean CCD patients were observed using a longitudinal series of radiographs and clinical photographs. Statistical analysis was performed on the dental phenotypic data.Results:Although dysplasia of the clavicles, open fontanelle, and wormian bone were observed in all 12 patients, delayed fusion of the mandibular symphysis was found in four patients. One patient did not have a supernumerary tooth (ST). However, 62 STs were found in 11 patients (mean, 5.6 per patient; range of ST emergence, 5 years 6 months–14 years 8 months; developing position, occlusal to the permanent incisors, canines, and premolars and distal and apical to the permanent molars). The mandibular premolar region was the most frequent area of ST development (50.0%, P < .001). All 12 patients showed impacted permanent teeth (IPT), including one patient without ST (mean, 17.8 per patient). Impaction occurred most frequently in the mandibular premolar region and least frequently in the maxillary molar region (93.8% vs 39.6%, P < .01). The ratio of spontaneous eruption of IPT after removal of retained deciduous teeth and/or ST was highest for the maxillary and mandibular incisors (all 54.6%) and lowest for the mandibular canines and premolars (26.7% and 28.9%, respectively); however, the difference was not significant.Conclusions:The emergence time and development position of ST and the root development of IPT should be considered to determine the timing for the removal of ST and forced eruption of IPT.     

Pure ectodermal dysplasia: retrospective study of 16 cases and literature review.

OBJECTIVE: To review the possible craniomaxillofacial deformative consequences associated with ectodermal dysplasias and embryonic malformations, which include dental ageneses. SETTING: Oral and Maxillofacial Surgery Department, University Hospital, Lille, France. PATIENTS: Sixteen patients (seven boys and nine girls, aged 4 to 34 years) with pure ectodermal dysplasia (no ectodermal dysplasia syndromes). INTERVENTIONS: All patients had a clinical examination. Seven (two boys and five girls, aged 4 to 25 years) had undergone plaster casts and radiographic and Delaire's cephalometric studies before being treated. MAIN OUTCOME MEASURES: All patients had tooth ageneses (from hypodontia to anodontia), associated with cutaneous dyshidrosis and hair and nail dystrophy. Most of them had a short face, with an unusual facial concavity, a maxillary retrusion, and a relative mandibular protrusion. MANAGEMENT RESULTS AND DISCUSSION: Depending on their ages and their orthopedic abnormalities, patients underwent either dental or prosthodontic, orthodontic, orthopedic, orthognathic, or implant treatment. So as not to interfere with the growth pattern, we preferred to reserve implant and orthognathic surgery for full-grown cases. CONCLUSIONS: Oral and maxillofacial surgeons must undertake a comprehensive approach to these patients to improve their dental, masticatory, growing, and orthognathic conditions.     

Cleidocranial dysplasia: importance of radiographic images in diagnosis of the condition

Cleidocranial dysplasia (CCD) is a rare syndrome usually caused by an autosomal dominant gene, although 40% of cases of CCD appear spontaneously with no apparent genetic cause. This condition is characterized by several cranial malformations and underdevelopment, absence of the clavicles, and multiple supernumerary and impacted permanent teeth. The diagnosis of this condition is usually based on the presence of the main features (supernumerary teeth, partial or total absence of one or both the clavicles, and bony malformations) and on clinical and familial evidence. The bony and dental features of CCD may be visualized on radiographic images of the face and skull. Here, we present a familial case of CCD and discuss the importance of dental radiographs in diagnosis of the condition.     

Delayed tooth eruption and suppressed osteoclast number in the eruption pathway of heterozygous Runx2/Cbfa1 knockout mice

Genetic studies have recently identified a mutation of one allele of runt-related gene 2 (RUNX2/CBFA1) as the cause for an autosomal-dominant skeletal disorder, cleidocranial dysplasia (CCD), which is characterised by hypoplasia of the clavicles and calvariae and widened sutures and fontanelles. In addition, CCD is frequently affected with multiple supernumerary teeth and the impaction and delayed eruption of teeth, the causes of all these dental abnormalities are still unknown. To clarify the cellular mechanism of the delayed tooth eruption in CCD, the process of tooth eruption was examined in heterozygous Runx2/Cbfa1 (mouse homolog of RUNX2/CBFA1) knockout mice, known to mimic most of the bone abnormalities of CCD. The timing of the appearance of maxillary and mandibular teeth into the oral cavity was significantly delayed in heterozygous mutant mice compared with wild-type mice. From postnatal days 8 to 10, an active alveolar bone resorption and a marked increase of the osteoclast surfaces was observed in the eruption pathway of both genotypes, but this increase was significantly suppressed in the mutant mice. In contrast, the osteoclast surfaces did not show a significant difference between the two genotypes in the future cortical area of femora. These results suggest that haploinsufficiency of Runx2/Cbfa1 does not effect the femoral bone remodelling but is insufficient for the active alveolar bone resorption essential for the prompt timing of tooth eruption. These results also suggest the possibility that impaired recruitment of osteoclasts is one of the cellular mechanisms of delayed tooth eruption in CCD patients.     

Anomalies of tooth formation in hypohidrotic ectodermal dysplasia

OBJECTIVE: The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study is the first to elaborate on anomalies of tooth formation found in a group of hemizygous males and heterozygous females with known ED1 mutations. These tooth anomalies may be used as dental biomarkers for heterozygous females, enabling an earlier diagnosis, and therefore, better treatment and genetic counselling. METHODS: Anomalies of tooth formation were examined using panoramic radiographs, dental casts and oral photographs in hemizygous males and heterozygous females who were identified by molecular genetic analysis. The results were compared to existing controls and normative data. RESULTS: All affected males had multiple missing permanent teeth and tooth malformations. The heterozygous females had a significantly higher frequency of agenesis of permanent teeth compared to normative data. The heterozygous females had an increased prevalence of tooth malformations and reduced tooth size, especially in the mesiodistal dimension. CONCLUSIONS: We conclude that observed anomalies of tooth formation may be used as dental biomarkers in the clinical identification of potentially heterozygous females.     

Orthodontic and oral surgery therapy in cleidocranial dysplasia

A cleidocranial dysplasia is an autosomal dominant inherited condition consisting of generalized skeletal disorder. Associated dental signs are present in 93,5%; failure of tooth eruption with multiple supernumerary teeth, dilaceration of roots, crown germination, microdontia, high arched palate, midface hypoplasia, high gonion angle. The molecular- genetic analysis revealed a missense mutation in the CBFA1 gene located on chromosome 6p21, which is considered to be etiological factor for CCD. Orthodontic and oral surgery therapy of a 13 year-old child with CCD was performed due to aesthetic and functional problems. The supernumerary germs were removed and the teeth were aligned with orthodontic appliances. Temporary functional rehabilitation was solved with partial denture. The presented case and the literature data support the importance of early diagnosis of CCD. The good collaboration of the orthodontic and maxillo-facial surgery specialists help achieve the correct rehabilitation of the patient.