Frequency of Le Fort I osteotomy after repaired cleft lip and palate or cleft palate.

OBJECTIVE: Diminished maxillary growth is a consequence of labiopalatal repair, and many patients with cleft lip and palate require Le Fort I advancement. The goal of this study was to determine the frequency of maxillary hypoplasia as measured by need for Le Fort I. SUBJECTS: Retrospective cohort study of males born before 1987 and females before 1989. Records of 173 patients with cleft lip and palate and 34 with cleft palate were reviewed. METHODS: Documented age, gender, cleft type, and need for Le Fort I. Pearson chi-square and Fischer's exact analyses were performed to evaluate the frequency of Le Fort I. RESULTS: Of 217 patients with cleft lip and palate or cleft palate, 40 were syndromic; of the remaining 177 patients, 69 had cleft lip, 78 had cleft lip and palate, and 30 had cleft palate. Thirty-seven of 177 patients (20.9%) required Le Fort I, subcategorized by cleft type: 0/69 for cleft lip, 37/78 for cleft lip and palate, and 0/35 for cleft palate (p<.0001). Of the 37/78 (47.4%) cleft lip and palate patients, the frequency of Le Fort I correlated with severity: 5/22 unilateral incomplete cleft lip and palate; 16/33 unilateral complete cleft lip and palate; 1/2 bilateral incomplete cleft lip and palate; 2/4 bilateral asymmetric complete/incomplete cleft lip and palate; 13/17 bilateral complete cleft lip and palate (p<.05). CONCLUSION: Overall frequency of Le Fort I was 20.9% in patients with cleft lip and palate and cleft palate. Of those with cleft lip and palate, 47.7% required maxillary advancement, but none with isolated cleft lip or cleft palate required correction. Frequency of Le Fort I osteotomy correlated with the spectrum of severity of labiopalatal clefting.     

Inheritance of cleft palate in South America: evidence for a major locus recessive

Authors – Vieira AR, Romitti PA, Orioli IM, Castilla EE Objectives – Determine the model of inheritance of non‐syndromic cleft palate in humans. Design – Complex segregation analysis performed in families of consecutive newborns affected with non‐syndromic cleft palate. Setting and Sample Population – The Latin American Collaborative Study of Congenital Malformations (ECLAMC). Four hundred and seven consecutive newborns affected with non‐syndromic cleft palate registered during the period 1967–97. Outcome Measure – Likelihood ratio test and Akaike information criterion (AIC) values. Results – The single major locus recessive model provided a significantly better explanation of the data. It was the most parsimonious and had the smallest AIC value of the six models tested with approximately the same likelihood as the general model (χ² = 2.44, p = 0.5). Conclusions – To have defined a genetic model for non‐syndromic cleft palate and provided evidence for a single major locus inheritance suggests that genetic linkage studies could be implemented.     

Genetics of cleft lip and palate revisited

Cleft lip with or without cleft palate (CL/CP) is one of the most common structural birth defects with treatment including multiple surgeries speech therapy, and dental and orthodontic treatments over the first 18 years of life. Providing care for these patients and families includes educating patients and parents about the genetics of CL/CP, as well as meeting the immediate medical needs. Attempts at identifying susceptibility loci via family and case-control studies have proved inconsistent. It is likely that initial predictions of the complex interactions involved in facial development were underestimated. The candidate gene list for CL/P is getting longer and the need for an impartial systematic screening technique, to implicate or refute the inclusion of particular loci, is apparent. So we are faced with the question "Can this complex trait be too complex?" The aim of this review is to make the dentist aware of the differences between syndromic and non-syndromic cleft as well as understanding the etiological variation in cleft lip with and without cleft palate. This will aid the dentist in diagnosis and give proper genetic counseling to parents and patients of cleft lip and palate.     

The incidence of cleft lip and palate deformities in the south-east of Scotland (1971-1990).

This retrospective study reports the incidence of infants born with the cleft lip and palate anomaly within the Edinburgh Cleft Units catchment area, between 1 January, 1971, and 31 December, 1990. The importance of accurate data collection for local, regional, and national data bases is discussed with reference to the recent CSAG report on cleft lip and palate services in the UK. Five-hundred-and-two cleft lip and palate patients were identified (291 males, 211 females). The incidence is reported as 1.4 per 1000 live births (1 in 711). Twenty-five per cent of clefts affected the primary palate, 45 per cent affected the secondary palate, and the remaining 30 per cent were clefts of both the primary and secondary palate. Overall, a higher percentage of males were affected (58 per cent males to 42 per cent females). Clefts of the secondary palate, however, were more common in females (56 per cent females to 44 per cent males). Data presented in this study is similar to that previously reported from UK centres. It is suggested the accuracy of the UK cleft lip and palate data collection needs to be improved. Prospective data collection in a standardized format carried out on a national basis has to be a priority as recommended by the CSAG report.     

Recent developments in orofacial cleft genetics

Nonsyndromic cleft of the lip and/or palate (CLP or orofacial cleft) derives from an embryopathy with consequent failure of the nasal process and/or palatal shelves fusion. This severe birth defect is one of the most common malformations among live births. Nonsyndromic CLP is composed of two separate entities: cleft lip and palate (CL+/-P) and cleft palate only (CPO). Both have a genetic background, and environmental factors probably disclose these malformations. In CL+/-P, several loci have been identified, and, in one case, a specific gene has also been found. In CPO, one gene has been identified, but many more are probably involved. Because of the complexity of the genetics of nonsyndromic CLP as a result of the difference between CL+/-P and CPO, heterogeneity of each group caused by the number of involved genes, type of inheritance, and interaction with environmental factors, we discuss the more sound results obtained with different approaches: epidemiological studies, animal models, human genetic studies, and in vitro studies.     

An assessment of informative-counseling procedures for cleft palate children.

32 children with cleft palate and their mothers were interviewed for the purpose of learning what information they had about cleft and cleft management. Their responses were compared with standards specified by eight cleft palate specialists from four disciplines. The findings indicate that the specialists were somewhat inconsistent in what they expected the families to know about clefts and in their routine counseling procedures to provide the information. In general, the mothers had appropriate knowledge about clefts but predicted that their children knew more about clefts and cleft management than was actually the case. The children had less than adequate information about the general impact of a cleft, the etiology of clefts, the rationale for cleft management they had received, and future management of their problem. The results of the study indicate the need or more systematic procedures for providing information to the child with a cleft. The results also suggest the need for additional research about the general counseling process.     

腭裂上颌骨三维有限元模型建立方法初探

目的:建立腭裂上颌骨复合体三维有限元模型的方法,并建立符合不同分析要求的腭裂上颌骨三维有限元模型。方法:采用螺旋CT扫描图像,应用ANSYS软件逐层建立了反映腭裂上颌骨解剖结构特点、可供实验分析的腭裂上颌骨局部及上颌骨复合体三维有限元模型。结果:建立了符合不同分析目的要求的腭裂上颌骨局部、腭裂上颌骨复合体及颅面复合体的三维有限元模型。结论:应用螺旋CT断层扫描和ANSYS分析软件相结合的方法,建立不同范围的腭裂上颌骨复合体三维有限元模型结构细致,方法可行。     

唇腭裂对低龄患儿听力影响的研究

目的：通过对2岁以下唇腭裂患儿进行术前耳科检查和听力测试,调查低龄唇腭裂患儿听力损伤的患病率。方法：选取2月-2岁唇腭裂患儿73例,分为单纯唇裂组、不完全腭裂组及完全腭裂组,术前进行耳镜检查、鼓室图、耳声发射（OAE）、听性脑干反应（ABR）等检查,并选择年龄相匹配的正常儿童61例作为对照组,进行组间比较。结果：单纯唇裂组、不完全腭裂组、完全腭裂组及正常对照组分别有18.2%、87.5%、96.3%、18.0%发生鼓膜异常,分别有9.1%、89.6%、96.3%、6.6%出现异常鼓室图,分别有34.1%、79.2%、98.1%、32.0%有OAE测试不通过,分别有6.8%、93.8%、98.1%、3.3%有ABR听阈异常。两个腭裂组在各项检查中的异常率均在统计学上显著高于单纯唇裂组和正常对照组,其中耳镜检查、鼓室图及ABR听阈检查两个腭裂组间无统计学差异。结论：低龄唇腭裂患儿听力损伤患病率较高,听力损伤与腭裂密切相关,但与腭裂类型无关。     

非综合征唇裂伴或不伴腭裂对口腔健康相关生活质量的影响

目的 探讨非综合征唇裂伴或不伴腭裂对口腔健康相关生活质量的影响。方法 回顾分析2017年1月—2019年6月山东省菏泽市立医院收治的非综合征唇裂伴或不伴腭裂90例患儿的临床资料,其中唇裂不伴腭裂52例（唇裂不伴腭裂组）,唇裂伴腭裂38例（唇裂伴腭裂组）;选择同期我院口腔科常规口腔检查、口腔健康的40例儿童作为对照组,所有入组者均进行口腔健康检查。应用问卷调查法评估口腔健康对日常生活的影响,采用SPSS 22.0软件包对口腔健康与日常生活质量的相关性进行Spearman相关分析。结果 唇裂不伴腭裂组与唇裂伴腭裂组在龋失补指数（DMFT）、功能牙数目（TH）、咬合牙对、龋齿牙数、LOA≥6 mm牙数间差异具有统计学意义（P<0.05）;唇裂不伴腭裂组与唇裂伴腭裂组的DMFT、TH、咬合牙对、龋齿牙数、LOA≥6 mm牙数均显著高于对照组（P<0.05）;唇裂伴腭裂组OIDP量表各条目得分、OIDP总分显著高于唇裂不伴腭裂组（P<0.05）;唇裂不伴腭裂组OIDP量表各条目得分、OIDP总分显著高于对照组（P<0.05）。采用Spearman法分析临床口腔健康指数与OIDP分数的相关关系,唇裂不伴腭裂组与唇裂伴腭裂组DMFT、MT与根龋牙数、LOA≥6 mm牙数与OIDP分数呈负相关;咬合牙对与OIDP分数呈正相关（P<0.05）。结论 非综合征唇裂伴或不伴腭裂的口腔健康对日常生活质量均有不同程度影响。     

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。     

Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region.

OBJECTIVE: The purpose of this study was to determine whether the candidate genes previously studied in subjects with cleft lip, cleft palate, or both are associated with hypodontia outside the region of the cleft. SUBJECTS: One hundred twenty subjects from the Iowa Craniofacial Anomalies Research Center were selected based on the availability of both dental records and genotype information. METHOD: The type of orofacial clefting and type and location of dental anomalies (missing teeth, supernumerary teeth, or peg laterals) were assessed by dental chart review and radiographic examination. Genotype analysis of candidate genes was performed using polymerase chain reaction/single-strand conformation polymorphism analysis. RESULTS: The prevalence of hypodontia in this sample was 47.5%, with 30.0% of subjects having missing teeth outside the cleft. There was a positive association between subjects with cleft lip or cleft lip and palate who had hypodontia outside the cleft region (compared with noncleft controls) and both muscle segment homeo box homolog 1 (MSX1) (p =.029) and transforming growth factor beta 3 (TGFB3) (p =.024). It was not possible in this analysis to determine whether this association was specifically associated with orofacial clefting combined with hypodontia or whether it was due primarily to the clefting phenotype. CONCLUSIONS: In this sample, there was a significantly greater incidence of hypodontia outside the cleft region in subjects with cleft lip and palate, compared with cleft lip only or cleft palate only. Cleft lip and/or palate with hypodontia outside the cleft region was positively associated with both TGFB3 and MSX1, compared with noncleft controls.     

The adult unoperated cleft patient: absence of maxillary teeth outside the cleft area.

OBJECTIVE: The purpose of this study was to investigate the possible absence of teeth in the postcanine region of the upper jaw of the unoperated adult cleft patient. METHOD: The study was performed on 266 dental casts of fully unoperated adult cleft patients. The patients were divided into four groups according to the type of the cleft: unilateral cleft lip and alveolus, unilateral cleft lip and palate, bilateral cleft lip and alveolus, and bilateral cleft lip and palate. RESULTS: No absence of permanent teeth in the canine and postcanine area of the upper jaw could be found. CONCLUSION: The results are in contradiction with the established hypothesis that absence of teeth outside the cleft area of the maxilla is due to an unknown congenital factor. On the contrary, the findings support the hypothesis that surgery for the closure of the hard palate in early childhood is the most important etiological factor for the absence of teeth outside the cleft area in the early operated cleft patient. The superficial position of the tooth germs (at the time of the palatal surgery), especially those of the premolars, supports this hypothesis.     

缝牵引成骨术修复腭裂临床研究

目的:探讨腭缝牵引成骨临床修复腭裂的新方法。方法:11例腭裂患儿一期在腭部放置腭裂牵引器,向前、后、内3方向牵引腭成骨,2~4个月裂隙明显缩窄后二期拉拢缝合裂隙。结果:除1例15d时牵引器脱落外,余10例均收到预期效果,牵引后裂隙平均缩窄至2.3mm,平均缩小9.4mm;平均硬腭长度延长5.5mm。随访3个月,硬腭长度无回缩。结论:缝牵引成骨术能诱导组织再生,缩窄裂隙并延长硬腭。     

Asian oral-facial cleft birth prevalence.

OBJECTIVE: To determine the clefting birth prevalence among Asian populations, specifically Chinese and Japanese, using raw counts from nonoverlapping published studies of Asian populations, and to investigate whether Asian clefting rates have been interpreted accurately as being up to twice the Caucasian rate. DESIGN: A literature review of articles giving raw counts of clefting in Asian populations, primarily Japanese and Chinese. MAIN OUTCOME MEASURES: Where possible, clefts were identified by the patients' ethnicity, country of origin, cleft type, syndromic status, and birth status. RESULTS: Prevalence rates of cleft lip with or without cleft palate per 1000 live births are reported. Syndromic plus nonsyndromic cleft lip with or without cleft palate: Chinese, 1.30; Japanese, 1.34; Other Asian, 1.47; and total, 1.33. Nonsyndromic cleft lip with or without cleft palate: Chinese, 1.20; Japanese, 1.18; Other Asian, 1.22; and total, 1.19. CONCLUSIONS: Overall, Chinese and Japanese live birth prevalence rates for nonsyndromic cleft lip with or without cleft palate, based on the published reports of birth prevalence, are significantly lower than the oft-quoted rate of 2 per 1000 for Asians. The apparent reason for the discrepancy is that many published prevalence rates included all pregnancies (live births plus pregnancy losses) and do not distinguish between syndromic and nonsyndromic clefts or between cleft palate alone and cleft lip with or without cleft palate. These results demonstrate that it is extremely important for current population-based studies of clefts to include careful delineation of population groups, syndromes, cleft type, and birth status.     

双侧唇腭裂新生儿数字化模型与硬石膏模型的比较

目的： 比较双侧唇腭裂新生儿口内扫描数字化模型和硅橡胶制取灌注的超硬石膏模型的可靠性和稳定性。方法： 收集19例双侧唇腭裂新生儿病例,分别制取口内扫描数字化模型和硅橡胶取模超硬石膏灌注模型,对上颌牙槽骨长度、上颌牙槽骨宽度、腭裂宽度及上颌中线偏斜量等指标进行测量。采用SPSS 24.0软件包对测量结果进行统计学分析。结果： 2种方法上颌牙槽骨长度、上颌牙槽骨宽度、腭裂宽度及上颌中线偏斜量3次测量间均无统计学差异（P>0.05）,2种方法的测量值无统计学差异（P>0.05）。结论： 双侧唇腭裂新生儿口内扫描获取的数字化模型与硅橡胶取模超硬石膏灌注获取的石膏模型各测量项目之间无显著差异。口内数字化扫描操作过程简便,可以提高诊疗效率,新生儿承受痛苦少,风险小,可广泛用于唇腭裂患儿的研究、诊断分析及临床治疗。     

Tooth maturation in cleft lip, cleft palate, or both

The relation between chronologic age and the development of permanent teeth in patients with cleft lip, cleft palate, or both was investigated according to the method described by Demirjian et al (1973). The patients were divided into three groups: (1) those with bilateral cleft lip and palate (BCLP), (2) those with unilateral cleft lip and palate (UCLP), and (3) those with cleft palate only (CP). Panoramic radiographs of 107 Caucasian children (66 boys and 41 girls) aged 4 to 12 years were evaluated. The degree of maturation of each of the permanent teeth on the left side of the mandible was determined, and a dental maturation score was computed for each child. The scores were compared with those obtained in a previous study of dental maturation in Caucasian children without cleft from the Chicago area (Loevy, 1983). Evaluation of the data demonstrated that there was no significant difference in dental maturity between girls with cleft lip, cleft palate, or both and with the sample of those free from cleft. There was a significant difference in dental maturity in boys when all cleft groups were evaluated together. There was no significant difference from the normal sample in boys with bilateral cleft lip and cleft palate or with cleft palate alone, but there was a highly significant difference from the normal sample in the group of boys with unilateral cleft lip and palate.     

Management of the prominent premaxilla in bilateral cleft lip and palate.

DESIGN AND OBJECTIVE: This study was designed to present our philosophy in managing the prominent premaxilla in patients with bilateral cleft lip and palate. Indications, contraindications, and the pre- and postoperative orthodontic role are defined. SETTING: Tertiary care, cleft palate and craniofacial center-academic institution. PATIENTS: Under review were four cases of bilateral cleft lip and palate presenting with prominent premaxilla and operated on by a single surgeon between 1996 and 2004. CONCLUSION: With appropriate patient selection, bilateral alveolar bone grafting with premaxillary repositioning is a safe procedure and can produce good aesthetic and functional results.