Width and elevation of the palatal shelves in unoperated unilateral and bilateral cleft lip and palate patients in the permanent dentition

Patients with cleft left lip and palate (CLP) normally require extensive surgery from an early age up to the end of adolescence. These surgeries affect the growth of the maxillofacial complex. The degree to which the cleft itself affects growth of the maxillofacial complex remains poorly understood. By analysing the width and elevation of the palatal shelves in unoperated adolescents and adults with unilateral and bilateral cleft lip and palate (UCLP and BCLP, respectively) and a non-cleft control group, it is possible to gain more insight into the real intrinsic growth potential of the maxillary structures. In this study, dental casts of the full permanent dentition of individuals with unrepaired UCLP (n = 68) and BCLP (n = 13) and non-cleft controls (n = 24) from the same area of Indonesia were digitized three-dimensionally. Maxillary arch width in the canine, premolar and molar regions, and the width and elevation of the palatal shelves were measured. Results showed that in patients with UCLP, the width of the palatal shelves on the cleft side in all regions, and on the non-cleft side in the canine/first premolar region, was significantly smaller compared with the control group. BCLP subjects showed similar deviations. In the UCLP group, the palatal shelves were rotated cranially and positioned more vertically. In the BCLP group, the palatal shelves were inclined by almost 10 ° more than the control group. The width of the palatal shelf and width of the maxillary arch positively correlated in the canine and first premolar regions for both the cleft and non-cleft side in patients with UCLP, and in the canine region for patients with BCLP. This means that the wider the palatal shelf, the wider the maxillary arch. The elevation of palatal shelves correlated with the maxillary arch width in all regions in patients with UCLP, and only in the premolar region in the control group. Thus, the wider the arch width, the smaller the elevation angle (the maxillary shelves are less vertical). No correlations between palatal shelf elevation and maxillary arch width were found in the BCLP group. This shows that the intrinsic growth potential in patients with UCLP and BCLP is affected by a smaller palatal shelf width and larger elevation of the shelves. These deviations may result in a wider cleft.     

唇腭裂相关基因研究进展

唇腭裂是一种常见的先天性畸形,其病因非常复杂,目前倾向认为是由多种基因和环境因素共同作用的结果。常见的引起唇腭裂相关的基因有TGFA,TGFβ3, BCL3, F13A等;环境因素在唇腭裂发生中的遗传修饰作用也很重要,主要的环境激发因素包括致畸因子（如烟草、酒精、糖皮质激素等）、感染和营养缺乏。基于基因打靶技术建立的鼠基因敲除模型很好地模拟了人类疾病的表现型,成为研究唇腭裂的一种强有力手段。     

Incidence of cleft lip and palate in the offspring of cleft parents

The results of this study support the idea that CL(P) is a polygenic trait. Furthermore, employing the calculations of Edwards, there was little evidence for major gene effects. The sex-modified threshold concept which has been made an integral part of the CL(P) polygenic model was not entirely confirmed by these data.
These data show an affected offspring risk for CP parents of both sexes of about 6 %. Although Edward's calculations failed to provide evidence for major gene effects in CP, there was an unexplained five-fold difference between CP frequency in offspring and sibs which needs further study.     

非综合征型单侧完全性唇腭裂患者牙弓形态学特点

目的 通过对上颌牙弓进行测量,了解非综合征型单侧完全性唇腭裂患者上颌牙弓的形态学特点,为临床评价牙弓发育、咬关系提供参考,为临床咬诱导治疗提供依据.方法 使用丹麦3Shape公司牙科模型扫描仪及应用软件,对32副非综合征型单侧完全性唇腭裂患者上颌牙弓的模型(分非裂侧和裂侧)进行扫描和数据测量,内容包括牙弓各段的宽度、长度、非裂侧和裂侧牙弓周长.使用SPSS14.0统计软件对裂侧和非裂侧牙弓测量值进行配对t检验.结果 双尖牙区,裂侧与非裂侧的宽度差异有统计学意义(第1双尖牙区t=5.19,P<0.01;第2双尖牙区t=3.24,P<0.05).第1恒磨牙区,裂侧与非裂侧的宽度差异无统计学意义(t=0.48,P>0.05).患者非裂侧比裂侧牙弓实际周长长约4.2mm,差异有统计学意义(t=4.61,P<0.01).结论 对于非综合征型单侧完全性唇腭裂患者,上颌牙弓在裂隙侧宽度明显发育不足,牙弓周长明显小于非裂侧.     

Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate

We report on a noninbred girl with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. Her mother had minor anomalies which could represent the mild expression of a gene. A review on the conditions combining ectodermal dysplasia and cleft lip/palate is presented.     

Walker-Warburg syndrome with cleft lip and cleft palate in two sibs

Two sibs are reported with Walker-Warburg syndrome including hydrocephalus, agyria, anterior chamber dysgenesis, and encephalocele. In addition, both had cleft lip and cleft palate and intrauterine growth retardation, findings not previously noted in this condition.     

早孕期唇腭裂的超声诊断初探

目的探讨二维颜面部正交叉三切面联合扫查以及三维新技术在早孕期唇腭裂诊断中的应用价值。方法选取2018年6月至2019年7月于宁夏医科大学总医院接受早孕期产前超声筛查的胎儿599例,头臀径(CRL)50~84 mm。首先应用二维超声评估胎儿腭部的3个重要标志,即腭线(正中矢状切面)、上颌骨牙槽突(横切面)和鼻后三角底部(冠状切面)。然后适当放大可疑胎儿以及30例正常胎儿面部图像,采集正中矢状切面三维容积数据,应用TUI、OmniView等技术观察腭部,并给予脱机分析。所有胎儿均进行中孕期超声畸形筛查,并在产后或引产后给予追踪随访。结果本研究599例胎儿共发现7例不同类型的裂缺,其中单侧唇腭裂3例,双侧唇腭裂2例,中央型唇腭裂2例,其余胎儿3个超声标志均没有回声缺失或连续性中断,敏感度为87.5%,特异性为100%,假阳性率为0,假阴性率为12.5%。产前诊断结果均经产后或引产后证实。结论二维颜面部三切面联合扫查可用于筛查早孕期唇腭裂,三维容积数据分析有利于唇腭裂类型的精确诊断。     

成人单侧完全性唇腭裂双侧髁突的形态特点

背景：对单侧完全性唇腭裂患者进行正畸治疗,应首先了解其髁突形态的特点。 目的：探索成人单侧完全性唇腭裂患者双侧髁突形态的特点。 方法：收集临床单侧完全性唇腭裂患者和正常志愿者各25例,分别作为实验组和对照组,通过全颌曲面断层片,测量髁突上部高度、升支高度、髁突高度、髁突颈部宽度,并计算髁突上部高度/升支高度和髁突高度/髁突颈部宽度。 结果与结论：与对照组相比,实验组患者健侧和缺损侧髁突上部高度、髁突颈部宽度、髁突高度、髁突上部高度/升支高度减小(P < 0.05),且髁突形态类型存在明显差异,但升支高度和髁突高度/髁突颈部宽度差异无显著性意义(P > 0.05),且实验组患者健侧和缺损侧髁突上部高度、升支高度、髁突颈部宽度、髁突高度、髁突上部高度/升支高度、髁突高度/髁突颈部宽度以及髁突形态差异无显著性意义(P > 0.05)。说明成人单侧完全性唇腭裂患者呈现髁突短而颈部窄,髁突相对下颌升支短小的特点,这为临床上矫治单侧完全性唇腭裂患者提供临床依据。 中国组织工程研究杂志出版内容重点：干细胞;骨髓干细胞;造血干细胞;脂肪干细胞;肿瘤干细胞;胚胎干细胞;脐带脐血干细胞;干细胞诱导;干细胞分化;组织工程     

Ectrodactyly, cleft lip and palate in two half sibs.

Two half sibs with bilateral complete cleft lip and complete cleft of the palate associated with ectrodactyly of the hands and feet, born to the same phenotypically normal mother, are reported. The younger of the two sibs also has dominantly inherited tremors (also referred to as essential heredofamilial tremors) as did her biological father. Possible genetic causes to explain the recurrence of the facial and limb malformations in the half sibs with additional central nervous system malformations in the younger sib are discussed.