唇腭裂1386例发病特点回顾性分析

目的：通过对唇腭裂患者临床资料进行回顾性统计分析,研究该病的发病特点,为唇腭裂的预防及治疗提供临床参考。方法：统计分析2007年1月～2010年1月手术治疗的1386例唇腭裂患者,分别从患者诊断、性别、年龄、出生地,唇腭裂裂型分布情况等方面进行回顾性调查。结果：本组病例中,单纯唇裂356例（25．69％）,唇裂合并腭裂580例（41．84％）,单纯腭裂450例（32．47％）;男809例,女577例,男：女=1．40：1;单侧唇裂伴或不伴腭裂明显多于双侧者,两者之比为5．67：1,其中左侧多于右侧（1．82：1）。结论：唇腭裂发病以唇裂合并腭裂居多,男性发病多于女性,在腭裂患者中女性发病高于男性;单侧发病多于双侧,左侧多于右侧。     

The current understanding of cleft lip malformations

Cleft lip with or without cleft palate is one of the most common congenital malformations. Epidemiology differentiates between cleft malformations connected with syndromes and the more common nonsyndromic forms not associated with other deformities. Although many syndromes with cleft lip with or without cleft palate are known, the majority of orofacial clefts are of the nonsyndromic form. These are known to be of multifactorial origin, with both environmental and genetic factors in their etiology, most of which remain to be fully investigated. Recent literature reveals that wide ethnical and racial variations in the occurrence of cleft lip and/or palate exist. The purpose of this overview is to show the current standing of research in this field. Genetics, environmental factors, and morphogenesis of the primary and secondary palate in normal development and cleft malformations are especially emphasized.     

Congenital heart disease and associated malformations in children with cleft lip and palate in Pakistan.

Children with cleft lip and palate often have other associated malformations. The reported incidence and types of associated malformations vary between different studies. There is a great paucity of literature on the subject from the region in general and none from Pakistan at all. The purpose of this study was to assess the frequency of associated malformations, particularly congenital heart disease, in children with cleft lip and palate presenting to the Aga Khan University (AKU) and Murshid Hospital (MH). From 1st October 1999 to 31st March 2002, all children with cleft lip and palate who presented to AKU and MH were prospectively enrolled in the study group. Socio-demographic characteristics and a number of other variables were documented. All children underwent a thorough clinical examination and an echocardiogram as part of the study protocol. 123 children formed the study group. Thirty-five (29%) of these children were found to have associated malformations. The most common of these was congenital heart disease, which accounted for 51% of all associated malformations. Thirty percent of cleft palate children had associated anomalies while 27% of cleft lip, with or without cleft palate, children had associated anomalies. There was a significant association between children born of a consanguineous marriage and the risk of associated malformations (p-value: 0.001). Consanguinity was present in 74% of children with associated anomalies as compared to 40% of children with no associated anomaly. Dysmorphic features and the presence of associated anomalies were also significantly associated (p-value: 0.009). Dysmorphic features were present in 46% of children with anomalies as compared to 21% of children with no associated anomaly. Fifty percent of children with associated anomalies had a low birth weight compared to 34% of children with no anomalies, but the difference was not statistically significant.The presence of consanguinity in a child with dysmorphic features should raise the suspicion of an associated anomaly. The likelihood of this being a cardiac defect is high and should be ruled out with a thorough clinical examination, supplemented with an echocardiogram in certain cases.     

Length of the cleft in relation to the incidence of hypodontia of the second premolar and to inheritance of cleft lip and palate in children with isolated cleft palate.

We studied severity of the isolated cleft palate expressed as the length of the cleft in relation to hypodontia in the second premolar regions and known inheritance of any type of cleft lip and palate. The material consisted of 47 children at 10 years of age born with non-syndromic isolated cleft palate of varying extent, who all had hypodontia of at least one second premolar, and had panoramic radiographs taken at 10 years of age. Information about length of cleft and inheritance of cleft lip and palate was collected from surgical files initiated at birth. The higher the number of missing second premolars, the more extended was the length of the cleft. More children had hypodontia of the second premolar in the mandible than in the maxilla. The family history had little influence on the length of the cleft.     

Clefts with associated anomalies and syndromes in Finland.

Probands with clefts born during an 11-year period, 1975-85, were evaluated; 1,586 probands were found of whom 345 (171 males and 174 females, 21.8%) had an associated anomaly. More male patients had cleft lips, with or without cleft palate (CL(P)) and more female patients had cleft palates (CP). The anomalies were subdivided according to anatomical site, and the biggest category was that of the extremities (29.7%) followed by cardiovascular (14.8%) and other facial anomalies (13.0%). The smallest category was chromosomal anomalies (2.7%) followed by miscellaneous anomalies (4.1%). A total of 560 malformations were found. Most anomalies per proband with clefts were found in the bilateral cleft lip and palate subgroup (mean 1.04). The lowest (0.14) was found in the subgroup with the least severe cleft deformity, the cleft lip with or without cleft alveolus. In the CP groups a similar trend was found with 0.21 in the subgroup of submucous cleft palate and 0.33 for the subgroup cleft palate, submucous clefts excluded. A total of 133 probands with 39 different recognised syndromes was delineated, 25 in the CL(P) group and 108 in the CP group (8.4% of the total 1,586 patients with clefts). There was no difference in parental age between probands with an associated anomaly and those with a solitary cleft. Anomalies were more than three times as frequent among probands with clefts as among the general population.     

Prenatal diagnosis of cleft lip and palate.

A prospective study was conducted over a period of 8 years to compare the severity of the cleft lip and palate detected by ultrasound scanning of the foetus with the severity at birth. In the UK all pregnant women undergo a routine perabdominal ultrasound scan at 20 weeks' gestation. There were approximately 250000 scans performed in our catchment area during the study period. A total of 270 children were born with cleft lip and/or palate, of which 130 had cleft lip with or without cleft palate. Out of these, 23 were positively diagnosed by the ultrasound scan. The specificity was 100% and the sensitivity was 17.5%. Only two diagnoses led to termination of the pregnancy.     

Comparison of the vasoconstrictive effect of adrenalin and POR 8 in cleft lip and palate surgery

Summary Forty unselected cleft lip and cleft palate patients were divided into 2 groups. Using a double blind test method, local infiltration was performed with adrenalin + xylocaine in group I and POR 8 in group 11. Heart arrhythmia did not occur in either of the two groups. A 20 to 50 percent increase in blood pressure and heart rate was observed after adrenalin infiltration. Less than 20 percent increase was observed after POR 8 infiltration. Bleeding was equivalent in the cleft palate group but there was some more bleeding with POR 8 in the cleft lip group. However, troublesome postoperative bleeding was observed in 4 cases of cleft palate after adrenalin infiltration, one of them requiring reintubation. This observation and the absence of side effects of POR 8 justify for us the routine use of this drug in cleft palate surgery.     

云南汉族非综合征性唇腭裂与p53基因多态性的相关性研究

目的:分析p53基因单核苷酸多态性(SNPs)位点的多态性,探究云南汉族非综合征性唇腭裂与p53基因的相关性。方法:选取2016年1月-2018年12月于笔者医院就诊的非综合征性唇腭裂患儿100例为试验组,选取医院同期无先天性畸形正常患儿100例为对照组。采用Taqman探针荧光定量PCR法对p53基因的SNPs位点rs12947788和rs1042522进行基因分型,并用χ^2检验和Logistic回归分析多态位点与非综合征性唇腭裂的相关性。结果:p53的基因SNPs位点rs12947788的等位基因变体A携带者(AA+GA vs GG)发生非综合征性唇腭裂的风险增加(OR=1.393,95%CI 1.030~1.884,P=0.032)。rs1042522(CC vs CG+GG)增加吸烟者母亲生下NSCL/P患儿的风险(OR=2.561,95%CI=1.146~5.721,P=0.022)。rs12947788(AA+GA vs GG)可明显增加有饮酒史母亲(OR=3.235,95%CI=1.158~9.040,P=0.025)生下NSCL/P患儿的风险。结论:云南汉族人群非综合征性唇腭裂与p53基因rs1042522、rs12947788多态具有一定的相关性。     

TGF-α基因TaqⅠ RFLPs与国人非综合征性唇腭裂关系的研究

目的　探讨国人非综合征性唇腭裂与转化生长因子 α(transforminggrowthfactoralpha ,TGF α)基因多态性的关系。方法　应用聚合酶链反应 限制性片段长度多态性核苷酸分型技术 ,以TaqⅠ限制性内切酶消化PCR扩增产物 ,对 10 7例非综合征性唇裂或唇腭裂 (nonsyndromiccleftlipwithorwithoutcleftpalate,NSCL P)患者、136例正常人的TGF α TaqⅠ等位基因进行分析。结果　NSCL P患者的C2等位基因频率与正常对照组明显增高 ,差异有显著性意义 (P <0 0 5 ) ;有家族史的患者的TGF α TaqⅠ基因型与无家族史患者比较 ,差异有显著性意义 (P <0 0 5 )。结论　TGF α基因多态性与国人的非综合征性唇腭裂的发生有关 ;有先天性唇腭裂家族史可能与TGF α TaqⅠ少见变异体相互关联。     

Computed axial tomographic assessment of cranioorbital anatomy in unilateral clefts

Anatomy of the cranioorbital region in the unoperated infant with cleft lip/palate, is not well known. In this study, computed axial tomography was performed in 7 infants with unoperated unilateral cleft lip combined with cleft palate but no recognized craniofacial syndromes, and on 5 age-matched control infants. Significant differences were found between the infants with cleft lip/palate and the normal infants. There was more plagiocephaly in the cleft group, and the flattened forehead on the involved side was associated with less facial projection. The angles of the petrous portions of the temporal bones and midsagittal plane were also significantly more obtuse in the cleft group. In the normal group the lateral orbital walls and petrous portions of the temporal bones formed a large symmetrical X. This X in the cleft groups was distorted and not readily recognizable. There were also trends indicating possible differences in the orbital and ethmoid orientations in the two groups.     

5459例唇腭裂患者临床资料分析

目的：对20年来唇腭裂的治疗及唇腭裂患者的构成情况进行回顾。方法：对5459例唇腭裂患者病历资料分类整理，进行统计学分析。结果：唇腭裂各类型性别比例差异有显著性意义，唇腭裂患者的首次手术年龄差异有显著性意义，其主要修复方式随年代的变化而不同。结论：唇腭裂患者中男性明显多于女性。自1980年以来，唇腭裂患者的首次手术年龄呈逐渐下降趋势，主要手术方法也有很大的变化。     

Palatal surface area measurement: comparisons among different cleft types

The purpose of this study was to use three-dimensional imaging methods to measure the palatal surface of unrepaired cleft patients. The surface area of the palate was defined and measured on three-dimensional computed tomography images of dental plaster models in four different groups of cleft patients at 3 months of age. There were 30 unilateral complete cleft lips and palates (UCLP), 27 bilateral complete cleft lips and palates (BCLP), 23 isolated cleft palates of incomplete form (CP), and 19 unilateral cleft lips without cleft palates (UCL). These patients were nonsyndromic, unoperated, and without other major deformities. The dental casts were scanned, and the computed tomography data were transferred to an imaging laboratory for processing and reconstruction of three-dimensional images. Surface area of the palate was delineated, which was defined as within the alveolar crest and the line connecting both tuberosities. In UCLP and BCLP, the edge of cleft formed the medial boundary of the area for each palatal shelf, and the palatal surface area was the combination of both palatal shelves and the premaxillary area in BCLP group. The surface area was measured. Repeated definition and measurement tasks were performed for calculation of errors. The imaging data management and measurement were performed using the Analyze program (Biomedical Imaging Resource, Mayo Foundation, MN). In addition, linear distances were measured between the canine points on the alveolar crest (line C) and the tuberosity points (line T). The measurements were compared among the different groups. Analysis of variance and multiple comparisons were used for statistical analyses. The results showed that the mean error between repeated area definitions and measurements in this study was 1.86%. The bilateral complete cleft lip and palate (BCLP) and unilateral complete cleft lip and palate (UCLP) groups had significantly smaller palatal surface area than the unilateral cleft lip without cleft palate (UCL) and isolated cleft palate of incomplete form (CP) groups. There was no significant difference between the BCLP and UCLP groups. Line C and line T distances were significantly longer in BCLP and UCLP groups than in UCL and CP groups. The findings suggest that compared with UCL and CP patients, there is an intrinsic tissue deficiency in the palate/maxilla of BCLP and UCLP patients.     

Gender differences in surgical treatment of patients with cleft lip and palate

Numerous gender-based differences in medical treatment have been recognized due to conscious or unconscious perceptions, i.e. gender bias. The aim of the present study was to investigate whether gender differences exist in the surgical treatment of patients with cleft lip and palate (CLP) anomalies. This study is a retrospective review of 235 consecutive patients with non-syndromic unilateral CLP or bilateral CLP born between 1966 and 1986. Each chart was reviewed, and 2178 surgical procedures were registered and categorized as primary surgery (primary lip, palatal and alveolar repair) or secondary surgery (aesthetic and functional revision). Different surgical procedures could be performed during the same surgical session. The number of surgeries performed was analysed and compared between genders. The results demonstrate that women with CLP received statistically significantly more secondary surgeries than men. No differences in the number of primary surgeries were identified. This study provides a gender perspective of the treatment of CLP. We identified no gender differences in primary surgery of the CLP. The standardized method of repairing the cleft is effective in preventing unjust treatment due to gender. However, we identified an indication of gender bias in cleft care regarding secondary surgeries of the nose and lip, namely, women are over-treated and/or men are under-treated. There are several possible explanations for this phenomenon, and further studies are needed.     

Otitis media and feeding with breast milk of children with cleft palate.

The purpose of the present study was to analyse the incidence of acute and secretory otitis media (OM), and feeding with breast milk, and the use of a grommet in children with a cleft palate (CP/CLP) or cleft lip (CL), compared with controls. A total of 84 children between 6 and 10 years of age were studied. The CP/CLP group consisted of 48 children with an isolated cleft palate (n = 28), or a cleft lip and palate (n = 20). The CL group consisted of 15 children with an isolated cleft lip. The controls were 21 children without clefts. Children with CP/CLP had acute OM significantly more often than children without clefts (43/48 compared with 10/21), and secretory OM (40/48 compared with 4/21), despite the use of grommets. CP/CLP children were breast fed for a mean of 2.8 months (range 0-13), compared with 3.6 months (0-12) for CL, and 7.5 (0-24) months for controls. There was a significant correlation during the first 18 months of life between longer duration of feeding with breast milk and a lower incidence of acute and secretory OM in the three study groups combined. The incidence of otitis media was not affected by care in a day centre, having a sibling attending a day care centre, or by the family's medical history. Despite cleft repair and early treatment with grommets, both secretory and acute OM are common among children with cleft palate, presumably as a result of their eustachian tube dysfunction. The present study suggests that premature cessation of feeding with breast milk may contribute to an increased incidence of acute and secretory OM.     

阶段性延续护理对提高唇腭裂患儿健康结局的影响

目的探究阶段性延续护理对提高唇腭裂患儿健康结局的影响。方法 2017年2月至2018年2月,90例唇腭裂患儿按方便分组方式分成对照组和实验组(n=45),对照组给予常规护理,实验组给予阶段性延续护理。结果实验组术后并发症发生率及SDS、SAS评分均低于对照组(P<0.05),患儿家长伤口护理能力高于对照组(P<0.05)。结论阶段性延续护理有助于降低唇腭裂患儿术后并发症发生率,能有效提高患儿家长对患儿伤口的护理能力,值得推广应用。     

Cleft lip and palate repair: the experience from two West African sub-regional centres.

Compliance with primary surgical treatment in people with cleft lip and palate is a well-known problem, especially in developing countries fraught with poverty and ignorance. Different protocols of treatment exist. In this paper, we retrospectively review a cohort from two centres, with a discussion on the outcome and its implications. The records of all patients with cleft lip and palate seen in the National Orthopaedic Hospital, Enugu, Nigeria, from January 1993 to December 1999, were sought, and all available case notes reviewed retrospectively. This included new cases seen in the period, and also cases operated during this period. Follow up took place until January 2005, when the data were collated. The records of all such patients seen at Ladoke Akintola University Teaching Hospital Osogbo, Nigeria, from September 2004 to June 2006 were also collated and analysed. During this period, 102 patients were seen (93 at Enugu and nine at Osogbo). Fifteen had isolated cleft palate, 42 had isolated cleft lip and 45 had combined cleft lip and palate. Presentation time ranged from 1 day to 43 years. The palate was not repaired in 20 people after lip repair; two patients with cleft lip and palate completely defaulted; and only one person with isolated cleft palate failed to undergo surgery in this period. Two patients in Osogbo absconded. The West African sub-region has a high drop out rate after lip repair.     

General intellectual capacity of young men with cleft lip with or without cleft palate and cleft palate alone.

We report on the general intellectual capacity of men around 17-19 years of age and with cleft lip either with or without cleft palate (CLP) or cleft palate alone. Data were obtained from the Swedish National Service enrollment register for the years 1991-1997, about 335 individuals with CLP and 88 with cleft palate alone, who were compared with a control group consisting of 272 879 people. Those with CLP showed no significant differences compared with the control group. The group with cleft palate alone had significantly lower general intellectual scores than the control group.     

Facial morphology and occlusion at the stage of early mixed dentition in cleft lip and palate patients treated with delayed closure of the hard palate

Cephalometric radiographs and dental study casts were analyzed in a group of 23 seven-year-old cleft lip and palate patients, 16 with unilateral and 7 with bilateral cleft. The patients' primary surgical procedures had been completed except for closure of the cleft in the hard palate. For comparison, similar records from another group of patients, 18 with unilateral and 8 with bilateral cleft lip and palate, were studied. In these cases the cleft of the hard palate had been repaired in infancy, using a vomer flap procedure. The results indicated that midfacial growth and dental occlusion of the unilateral cleft sample was significantly better in patients whose closure of the hard palatal cleft had been delayed to the stage of mixed dentition than where repair had been performed with a vomer flap in infancy. No differences were found, however, between similar subgroups with bilateral cleft lip and palate.     

Facial appearance in adults who had cleft lip and palate treated in childhood

Sixty-eight adults (44 men and 24 women) with treated total cleft lip and palate were compared with a group of 66 adults (49 men and 17 women) without clefts, matched by sex and age. The outcome measures included a self-report questionnaire about body image, quality of life in general, health-related quality of life, somatisation, and depression. The group with clefts were also asked if they had further need of treatment. They reported significantly more dissatisfaction with their facial appearance (nose, lips, mouth, profile, and overall facial appearance) than the group without clefts. Satisfaction with facial appearance was significantly correlated with a better quality of life in both groups, and significantly correlated with a better health-related quality of life and a lower grade of somatisation in the group with clefts. Dissatisfaction with facial appearance was the most significant predictor of depression in both groups. A panel of four professionals from a cleft lip and palate treatment team judged the outcome of treatment in 64 of the subjects on colour slides. The professionals and the subjects with clefts were generally not very satisfied with the results of the surgical outcome. Thirty of the subjects with clefts (47%) wished to have more operations. The professional group recommended further operations in 38 of the cases (59%), in particular, rhinoplasties. We conclude that the subjects with treated clefts were not satisfied with their facial appearance, although they seem to be psychosocially well-adjusted to their disability.     

Facial appearance in adults who had cleft lip and palate treated in childhood.

Sixty-eight adults (44 men and 24 women) with treated total cleft lip and palate were compared with a group of 66 adults (49 men and 17 women) without clefts, matched by sex and age. The outcome measures included a self-report questionnaire about body image, quality of life in general, health-related quality of life, somatisation, and depression. The group with clefts were also asked if they had further need of treatment. They reported significantly more dissatisfaction with their facial appearance (nose, lips, mouth, profile, and overall facial appearance) than the group without clefts. Satisfaction with facial appearance was significantly correlated with a better quality of life in both groups, and significantly correlated with a better health-related quality of life and a lower grade of somatisation in the group with clefts. Dissatisfaction with facial appearance was the most significant predictor of depression in both groups. A panel of four professionals from a cleft lip and palate treatment team judged the outcome of treatment in 64 of the subjects on colour slides. The professionals and the subjects with clefts were generally not very satisfied with the results of the surgical outcome. Thirty of the subjects with clefts (47%) wished to have more operations. The professional group recommended further operations in 38 of the cases (59%), in particular, rhinoplasties. We conclude that the subjects with treated clefts were not satisfied with their facial appearance, although they seem to be psychosocially well-adjusted to their disability.