2011—2015年广东省唇腭裂流行状况分析

目的了解2011—2015年广东省唇腭裂流行状况。 方法以2011—2015年在广东省出生缺陷监测体系内58家医院分娩的围产儿（孕28周至出生后7天）及孕产妇为研究对象,描述性分析广东省唇腭裂分布及类型特征,使用卡方检验、有序分类回归,构成比进行统计学分析。 结果符合纳入标准的围产儿1 203 800例,检出唇腭裂1664例,检出率为13.83/万;广东省内揭阳市检出率最高为21.30/万,湛江市检出率最低为7.78/万。2011—2015年逐年检出率分别为15.81/万、14.00/万、9.02/万、15.81/万、11.00/万,各年份间无明显趋势性;总唇腭裂检出率在4月最高和9月最低,差异无统计学意义（χ²= 128.34,P= 0.403）。孕产妇年龄分层中,>35岁年龄组和<20岁年龄组检出率较高,分别为23.86/万和17.73/万;男性围产儿检出率为16.45/万,女性围产儿的检出率为12.40/万,性别间总唇腭裂的检出率差异有统计学意义（χ²= 32.74,P<0.0001）,唇腭裂类型在不同围产儿性别间的分布其差异有统计学意义（χ²= 52.78,P= 0.0012）。唇裂、腭裂、唇裂合并腭裂的构成比分别为27.94%、25.54%、46.51%。 结论加强唇腭裂区域防控措施,进一步研究唇腭裂性别差异的影响因素,普及优生优育及出生缺陷防控相关健康教育以减少出生缺陷的发生。     

1320例唇腭裂患者临床统计分析

目的:了解唇腭裂的最新流行病学情况,寻找与唇腭裂发生相关的可能因素,为唇腭裂病因研究及预防提供临床资料.方法:对我院自2001年1月至2006年12月收治的1320例唇腭裂患者进行回顾性临床统计分析.结果:本组病例中,男性920例(69.70%),女性400例(30.30%);唇裂410(31.06%)、唇裂伴腭裂782例(59.24%)、单纯腭裂128例(9.70%) ;全部病例中合并牙槽突裂895例,占67.80%;单侧唇裂伴或不伴腭裂明显多于双侧者,两者之比为3.26:1,其中左侧多于右侧(1.71:1);有家族遗传史的病例占总病例的4.47%,其中唇裂伴或不伴腭裂有遗传史者占唇裂伴或不伴腭裂病例总数的3.86%,单纯腭裂有遗传史者占单纯腭裂病例总数的10.16%;唇腭裂患者母亲孕3个月经历危险因素者共267例,占唇腭裂总数的20.23%,其中唇裂伴或不伴腭裂患者224例,占唇裂伴或不伴腭裂患者总数的18.79%,单纯腭裂患者43例,占单纯腭裂患者总数的33.59%;所有患者中出生于7～9月者均少于其它其它季度.结论:唇腭裂发病以唇裂合并腭裂居多,且以单侧发病多于双侧,男性发病多于女性发病.多基因遗传和胚胎所处的环境因素是唇腭裂的重要病因.     

400例唇腭裂患儿母乳喂养现况调查及影响因素分析

目的 通过问卷调查,了解唇腭裂患儿母乳喂养现状并分析影响母乳喂养的因素,以促进唇腭裂患儿的母乳喂养。方法 采用随机抽样方法,抽取1994—2017年间于上海交通大学医学院附属第九人民医院接受治疗的400例唇腭裂患儿,进行问卷调查,研究内容主要包括唇腭裂患儿母乳喂养的现状及影响母乳喂养的因素。采用SPSS 20.0软件包对数据进行处理。结果 400例唇腭裂患儿中,184例（46%）接受母乳喂养,女性患儿的母乳喂养率是男性患儿的1.868倍（95%CI：1.241~2.812）,家长接受过母乳喂养专业医疗咨询患儿的母乳喂养率是家长未接受咨询患儿的1.560倍（95%CI：1.018~2.391）,唇裂组的母乳喂养率是唇裂伴腭裂组的4.904倍（95%CI：3.028~7.943）。不同类型唇腭裂患儿之间的直接母乳喂养率、软质塑料奶瓶和硬质奶瓶使用率之间有显著差异（P<0.0001）,单侧唇裂患者的直接母乳喂养率显著高于其他唇腭裂患者,单侧唇裂伴腭裂的患者软质塑料奶瓶的使用率显著高于其他唇腭裂患者。不同季节出生的患儿,母乳喂养率之间无显著差异（P=0.1374）。结论 本组唇腭裂患儿的母乳喂养率低于全世界范围内的非唇腭裂人群,其影响因素包括性别、专业人士的医疗指导以及腭裂的存在与否。     

400例唇腭裂发生情况的分析

唇腭裂是新生儿常见的一种先天性发育畸形。作者对400例唇腭裂患者的性别、唇裂的左右侧、单纯唇裂、唇腭裂和腭裂以及并发畸形的发生情况与部分国内资料进行比较分析,同时还统计分析了胎次与唇腭裂的关系。     

9720例唇腭裂患者临床资料分析

目的:了解近年来甘肃省先天性唇腭裂的发病情况,探讨与其发病有关的影响因素,为该病的预防与治疗提供依据。方法:收集并统计分析2005-03—2013-03间,在甘肃省人民医院口腔颌面外科进行唇腭裂手术的9 720例患者的临床资料。结果:唇裂3 546例、唇裂伴腭裂3 888例、腭裂2 286例;男女比为1.62∶1;单侧与双侧唇腭裂比为4.44∶1;左侧与右侧比为2.07∶1;农村与城市的患儿比为5.04:1;陇南市患者占总人数的40.78%;母亲文化水平为初中以下的占总人数的85.05%。结论:陇南地区唇腭裂患者占多数;唇裂合并腭裂居多;左侧多于右侧;男性多于女性;农村多于城市。遗传因素和地理环境因素可能是甘肃省内先天性唇腭裂的危险因素。而母亲文化程度的高低与唇腭裂的发生无相关性。     

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。     

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。     

2447例唇腭裂患者的临床资料分析

目的　了解先天性唇腭裂的患病状况及特点 ,寻找与唇腭裂发生有关的影响因素 ,为唇腭裂的预防与治疗提供依据。方法　对 1989～ 1998,10年间在原华西医科大学口腔医院颌面外科手术治疗的 2 4 4 7病例进行回顾性临床统计学分析。结果　在本组病例中 ,唇裂 6 4 8(2 6 5 % )、唇腭裂 996 (40 7% )、单纯腭裂 80 3(32 8% )。唇裂伴或不伴腭裂中 ,男多于女 (2 .14∶1) ,单纯腭裂女多于男 (0 77∶1)。单侧唇腭裂明显多于双侧 ,两者之比为 4 84∶1,其中左侧者多于右侧者 ,两者之比为 2 14∶1。有遗传史的病例占病例总数的 7 4 % ,其中唇裂伴或不伴腭裂有遗传史者占唇裂伴或不伴腭裂患者的 8 2 % ,单纯腭裂有遗传史者占单纯腭裂患者的 6 5 %。母亲怀孕前 3月经历危险因素有 95 4例 ,占 39 0 % ,其中唇裂伴或不伴腭裂者 70 0例 ,占唇裂伴或不伴腭裂患者数的 4 2 6 % ,单纯腭裂2 5 4例 ,占单纯腭裂的 31 6 %。A型和O型血患者比例高于正常人群比例 ,而B型血者比例低于正常人群比例 ,单纯唇裂出生于 4～ 6月者人数小于其他季度 ,而单纯腭裂出生于 7～ 9月者人数少于其他季度 ;19例双生子中 ,均为其中之一发病 ,无同时发病者。唇腭裂伴发畸形者共 4 1例 ,占总病例数的 1 7%。结论　本资料提示唇腭裂的发生可?     

0～6岁唇腭裂患儿血液生化指标的变化规律

目的 探索唇腭裂患儿可耐受唇腭裂手术的相对安全生化值,为尽可能多的唇腭裂患儿适时开展手术治疗,保证患儿可以达到序列治疗的最佳效果.方法 回顾分析了已安全完成唇腭裂修复手术的985例患儿的术前多项生化值,用多种医学统计分析的方法进行交叉对比.结果 患儿的总胆红素、直接胆红素、间接胆红素、白蛋白和肌酐及淋巴细胞和红细胞的95％参考值范围完全包含在标准参考值内,白细胞、血小板、血浆白蛋白和球蛋白的比值(简称白球比)、丙氨酸氨基转移酶(ALT)和天冬氨酸氨基转移酶(AST)的95％参考值范围较标准参考值高,血红蛋白、总蛋白、球蛋白和尿素95％参考值范围较标准参考值低;唇腭裂患儿各性别组间血红蛋白、总蛋白、白蛋白、球蛋白和尿素的差异有统计学意义,女性患儿的这些数值要普遍高于男性患儿;单纯唇裂患儿的红细胞、血红蛋白、总蛋白、球蛋白、尿素和肌酐均高于单纯腭裂患儿和唇腭裂患儿;唇腭裂患儿的淋巴细胞、总胆红素、直接胆红素、间接胆红素、ALT和AST均高于单纯腭裂患儿和单纯唇裂患儿.结论 唇腭裂患儿的白细胞、血小板、淋巴细胞、白球比、ALT和AST可能较标准参考值偏高,医生在作术前评估时,可以参考本研究结果,作为开展唇腭裂手术的相对安全指标,以避免错过患儿的最佳手术期,但同时也要更加留意其相关风险性.     

外周血miR-299-5p和miR-127-3p的表达水平与非综合征型唇腭裂相关性研究

目的:研究外周血中miR-299-5p和miR-127-3p的表达水平与非综合征型唇腭裂(NSOC)的相关性.方法:选取于哈尔滨医科大学附属第一医院就诊的唇裂伴或不伴腭裂(CL/P)患儿、单纯腭裂(CPO)患儿和健康儿童各10例,采用实时荧光定量RT-PCR(qRT-PCR)检测各组外周血中miR-299-5p和miR...     

Structural birth defects associated with oral clefts in Hawaii, 1986 to 2001.

OBJECTIVE: To identify structural birth defects that occur in association with oral clefts. METHODS: Data were obtained from a birth defects registry and included all infants and fetuses with cleft palate without cleft lip or cleft lip with or without cleft palate delivered from 1986 to 2001. For 47 specific structural birth defects, rates among oral cleft cases were compared with the rates among all infants and fetuses with major birth defects, excluding those with oral clefts. RESULTS: Among cleft palate only cases, the rates were significantly higher than expected for encephalocele, microcephaly, and syndactyly. Among cases of cleft lip with or without cleft palate, the rates were significantly higher than expected for anophthalmia/microphthalmia, single ventricle, reduction deformity of upper limbs, and reduction deformity of lower limbs. When cases of cleft palate only and cleft lip with or without cleft palate were compared as to the rates for particular birth defects, the rates of the defects were either higher or lower than expected in both oral cleft categories for 38 (81%) of the defects. CONCLUSIONS: Certain birth defects were more frequently associated with oral clefts than might be expected. For the majority of defects, their patterns of association were similar between cleft palate without cleft lip and cleft lip with or without cleft palate.     

Influence of season on prevalence of cleft lip and palate

According to the multifactorial threshold (MFT) model, cleft lip and palate (CLP) result from the influence of exogenous and endogenous genetic factors. Based on nearly 1000 cases of cleft lip with or without cleft palate treated in the clinic for maxillofacial surgery of the Martin-Luther University Halle-Wittenberg during the period 1946-1995, we investigated the influence of season on the occurrence of this malformation. Seasons of the year reflect various exogenous factors that may be accessible to prevention. The calculated date of conception served as comparison value between the study group and controls. The clefts of type III (CLP; P = 0.48), isolated CP (P = 0.933) or male patients with clefts of type I showed no significant deviation from the distribution in the control group over the year. We proved a significant maximum in spring, summer and autumn and a minimum in winter for the conception date of female patients with type I clefts (P = 0.033, relative risk = 2.6). Some of the seasonal factors implicated in the aetiology that play a role in the development of clefts could be:     

Current data on the characterization of oral clefts in Brazil

This study aimed at investigating the current distribution of the several types of clefts among the patients receiving treatment at the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC-USP), Bauru, Brazil, for the first time during the year 2000. A total of 803 unoperated patients with cleft lip and/or palate, with or without additional malformations, with no recognizable syndromes, who came to the HRAC-USP for enrollment for treatment during the year 2000. A predominance of complete cleft lip and palate, either unilateral or bilateral, was observed (37.1%), followed by isolated cleft palate (31.7%) and isolated cleft lip (28.4%). A discrete relationship between cleft palate and the female gender was noticed (53%), and males were more affected by the other types of clefts (around 60%). The findings revealed a predominance of complete clefts of the primary and secondary palate, the treatment of which is more complex, and whose frequency is greater in males.     

单侧唇腭裂鼻-牙槽骨塑形后同期唇-鼻-牙槽骨整复术

目的:探讨唇腭裂婴幼儿术前鼻-牙槽骨塑形后的同期唇-鼻-牙槽骨整复术的方法与技术,并进行初步疗效评价。方法:对31例单侧完全性唇腭裂婴幼儿进行术前鼻-牙槽骨塑形及同期唇-鼻-牙槽骨整复术。术前鼻-牙槽骨塑形主要包括关闭牙槽骨间隙、唇牵张及鼻矫形;早期同期唇-鼻-牙槽骨整复术,即牙龈-牙周膜-牙槽骨整形术和改良Mohler法单侧唇裂唇鼻畸形同期整复术。采用SPSS10.0统计软件包对所得数据进行t检验。结果:31例唇腭裂婴幼儿经2～3个月术前鼻-牙槽骨塑形,唇裂隙宽度显著变窄(P<0.01),裂隙两侧唇组织适度牵张;鼻小柱延长及鼻塌陷畸形显著改善(P<0.05);牙槽裂隙显著变窄(P<0.01)。术后2例失访,29例患者随访6～30个月,结果显示:上唇和鼻形态俱佳,鼻小柱端正,鼻尖形态改善,双鼻孔、鼻底堤状隆起对称;口腔前庭-鼻腔瘘封闭;27例患者牙槽突裂隙关闭,牙槽骨连续性及稳定性增强并在原牙槽裂隙处有牙萌出,其中13例牙槽嵴高度、宽度及厚度不足;2例仍有1～2mm的牙槽裂隙。结论:单侧完全性唇腭裂患者为了获得理想的唇鼻形态及完整稳定的牙槽骨,术前进行鼻-牙槽骨塑形和同期唇-鼻-牙槽骨整复术是值得采用的序列治疗方法。     

A population-based evaluation of antenatal diagnosis of orofacial clefts

OBJECTIVES: To evaluate the changes in prevalence and antenatal detection of cleft lip with or without cleft palate and isolated cleft palate and to describe the association between anomalies and rates of antenatal diagnosis in Nova Scotia from 1992 to 2002. DESIGN: This population-based cohort study employed the Nova Scotia Atlee Perinatal Database, the Fetal Anomaly Database, and IWK Cleft Palate Database in Halifax, Nova Scotia, Canada. OUTCOME MEASURES: Cleft type, mode of diagnosis, and associated abnormalities of orofacial clefts for liveborn infants, stillbirths, and second trimester terminations of pregnancy between 1992 and 2002 were determined. RESULTS: There were 225 fetuses identified as having orofacial clefts. The overall prevalence of clefts was 2.1 in 1000 live births, and this prevalence did not change with time. The overall antenatal detection of cleft lip with or without cleft palate was 23%; however, there was improvement in detection of cleft lip with or without cleft palate from the years 1992 to 1996 (14%) to the years 1997 to 2002 (30%, p = .02). No isolated cleft palates were detected antenatally. Associated structural anomalies were seen in 34.2% of cases with orofacial clefts, and chromosomal abnormalities were associated with 9.8%. CONCLUSIONS: The prevalence of orofacial clefts in Nova Scotia has not changed from 1992 to 2002. The proportion of antenatally diagnosed cleft lip with or without cleft palate in Nova Scotia is consistent with rates reported in the literature and has increased from 1992 to 2002.     

Cleft lip and palate in Denmark, 1976-1981: epidemiology, variability, and early somatic development

The present investigation describes the incidence and variability of the primary cleft condition in all Danish infants born with cleft lip, cleft palate, or both, from 1976 to 1981 and analyzes general somatic growth from birth to age 22 months. Because of excellent sampling conditions in Denmark, the study material is nearly complete. Six hundred and seventy-eight infants with facial clefts were born during the period, corresponding to 1.89 per 1,000 of all newborns. Six hundred and two patients were examined--most of them twice: at 2 months and at 22 months. Material uptake included plaster casts of the upper jaw, cephalometric films in three projections, anthropometric registrations, and information from hospital charts. A detailed grading of the clefts according to severity was carried out. Sex distribution was 61% males and 39% females, of whom 34% had isolated cleft lip, 39% combined cleft lip and palate, and 27% an isolated cleft palate. Left-sided clefts were most frequent. In the combined cleft lip and palate group, 90% exhibited subtotal or total clefts, whereas the clefts were less severe in the isolated cleft lip and isolated cleft palate patients. Birth weight and length showed values close to the average for Danish newborns, but a lag was seen in infants in whom severe palatal cleft was included. The extended method of classification was suggested to select subgroups for special care.     

Association of the GABRB3 gene with nonsyndromic oral clefts.

OBJECTIVE: Nonsyndromic oral clefts are common craniofacial anomalies classified into two subgroups: cleft lip with or without cleft palate and isolated cleft palate. Nonsyndromic oral clefts are multifactorial diseases, with both genetic and environmental factors involved in their pathogenesis. The inhibitory neurotransmitter, gamma-aminobutyric acid plays a role in normal embryonic, and particularly facial, development and gamma-aminobutyric acid receptor type A beta-3 subunit (GABRB3) knockout mice have been shown to have cleft palate. The GABRB3 gene is therefore a strong candidate gene for nonsyndromic oral clefts. We investigated here whether genetic variations of the GABRB3 gene affect the risk for nonsyndromic oral clefts. METHOD: In this case-control study, a total of 178 Japanese patients with cleft lip with or without cleft palate and 374 unrelated controls were recruited and were genotyped for six single nucleotide polymorphisms and a dinucleotide repeat marker of the GABRB3 gene. RESULTS: None of the single nucleotide polymorphisms showed complete linkage disequilibrium with other single nucleotide polymorphisms. In a case-control association study with the six-locus haplotype of the gene, TGTGCT haplotype frequency in patients with cleft lip with or without cleft palate was significantly higher than in the controls (corrected p value = .029). None of the alleles of the dinucleotide repeat marker showed significant association with cleft lip with or without cleft palate. CONCLUSIONS: Our data suggest that the GABRB3 gene is involved in the pathogenesis of cleft lip with or without cleft palate in the Japanese population.     

Clinical and genetic study on 356 Brazilian patients with a distinct phenotype of cleft lip and palate without alveolar ridge involvement

Oral clefts include cleft lip (CL), cleft lip with cleft palate (CLP) and cleft palate (CP), with wide variations in clinical presentation and degree of severity. We described a sample of individuals with CL and CP without alveolar arch involvement (CL + CP) to verify if the characteristics of this group are distinct from those with CL with or without CP (CL/P) described in literature. The sample was composed of 356 patients with CL + CP, registered at HRCA-USP, Bauru-SP-Brazil. The following characteristics were investigated: sex ratio, parental age at the time of conception, parental consanguinity, familial recurrence, laterality of the cleft and associated anomalies. A subgroup of 30 individuals with microforms of CL and CP were taken from the sample and compared with the remaining cases. Statistical differences were found between this CL + CP sample and the literature data for groups with CL/P regarding laterality, sex ratio, consanguinity, familial recurrence, and the presence of associated anomalies. The microform sample showed a statistical difference in paternal age. In most evaluated aspects, this sample presents similar characteristics to the consulted literature data for CL/P; as do the group of microform cleft cases when compared with the remaining CL + CP sample in this study. Microforms of cleft can represent a target group for investigation into the embryogenetic mechanisms of oral clefts and their phenotypic variability.     

Cleft lip and cleft palate closure in 13 month-old female with Epidermolysis Bullosa

Skin blistering and fragility are hallmarks of the rare hereditary disease called Epidermolysis Bullosa, affecting mainly the skin but also all mucocutaneous layers and sometimes the aerodigestive tract. Orofacial clefts are among the most common structural birth defects in humans, seen about 2 cases per 1000 births. This case report illustrates the closure of cleft lip and cleft palate in 13 month female with epidermolysis bullosa.     

Associated malformations in cases with oral clefts.

OBJECTIVE: Infants with oral clefts (OCs) often have other associated congenital defects. The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalence of associated malformations in a geographically defined population. METHOD: The prevalences at birth of associated malformations in infants with OCs were collected between 1979 and 1996 on all infants born in the area covered by the registry of congenital anomalies of Northeastern France in 238,942 consecutive births. RESULTS: Of the 460 cleft infants born during this period, 36.7% had associated malformations. Associated malformations were more frequent in infants who had cleft palate (46.7%) than in infants with cleft lip and palate (36.8%) or infants with isolated cleft lip (13.6%). Malformations in the central nervous system and in the skeletal system were the most common other anomalies, followed by malformations in the urogenital and cardiovascular systems. Weight, length, and head circumference of children with OCs and multiple associated malformations were lower than in controls, as was the weight of the placenta. Prenatal diagnosis was rarely done by fetal ultrasonographic examination in isolated clefts. However, even in multiple associated malformations, prenatal diagnosis by fetal ultrasonographic examination had a low sensitivity, 31.6%. CONCLUSION: The overall prevalence of malformations, which was one in more than three infants, emphasizes the need for a thorough investigation of infants with clefts. A routine screening for other malformations especially skeletal, central nervous system, and cardiac defects may need to be considered in infants with clefts, and genetic counseling seems warranted in most of these complicated cases.