Embryology and epidemiology of cleft lip and palate

Craniofacial anomalies, in particular cleft lip and palate, are major human birth defects with a worldwide frequency of 1 in 700 and substantial clinical impact. This article reviews the embryology of the face, lip, and palate to enhance the understanding of the pathogenesis of these lesions, with particular attention to the period of susceptibility during gestation, complexity, and the factors that may influence their development. It includes an overview of the prevalence and environmental and genetic causes of cleft lip-with or without cleft palate- and cleft palate.     

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.     

Epidemiology of orofacial clefts in Finland: a review

Epidemiological studies on clefts in Finland seem to give support to the following theories: 1. Both genetic and environmental factors seem to play a role in the pathogenesis of cleft lip and/or cleft palate, which in the majority of cases are probably two different anomalies. 2. The incidence of cleft lip and/or cleft palate in Finland has increased, probably because of a change in the environmental factors. 3. The incidence of cleft palate in Finland is higher than anywhere, which seems to be the result of differing genetic factors. 4. The exogenous factors remain unidentified, but in cleft lip and/or cleft palate parallel fluctuations and an increasing trend have been noticed, arguing for similar and simultaneous factors. 5. More patients with cleft palate than cleft lip/palate have "cleft syndromes."     

先天性唇腭裂患儿的围手术期护理

目的：先天性唇腭裂是口腔颌面部最常见的先天畸形,探讨如何加强对唇腭裂患儿的围手术期护理,以达到最理想的手术及术后康复效果。方法：统计我科2009年1月1日～2010年12月31日收治的120例唇腭裂患儿,总结围手术期护理经验。结果：所有患儿经过精心的护理、心理和康复治疗,均获得良好的治疗效果。结论：良好的围手术期护理以及心理护理是唇腭裂患儿手术成功及术后康复的重要保障。     

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。     

颌面部神经阻滞在唇腭裂修复术围手术期的应用进展

背景 唇腭裂在小儿先天性疾病中占很高比列,小儿唇腭裂修复术围手术期的疼痛对喂养和伤口愈合有很大影响. 内容 总结分析颌面部神经阻滞对唇腭裂患儿围手术期镇痛、术后苏醒、颌面部神经阻滞相关并发症以及对术后应用镇痛药物各方面的影响. 目的 通过对小儿唇腭裂修复术围手术期颌面部神经阻滞镇痛方式、应用药物研究现状的总结归纳,探讨颌面部神经阻滞用于唇腭裂修复术围手术期的镇痛效果和副作用,为唇腭裂修复术围手术期镇痛提供有效的依据,完善小儿镇痛. 趋向 颌面部神经阻滞是唇腭裂修复术围手术期较为理想的一种镇痛方式,超声的引进使小儿术后镇痛得到进一步完善.但目前仍缺乏一种绝对满意、安全的颌面部神经阻滞方法,相关内容仍需进一步临床研究.     

22q11 Deletion in children with cleft lip and palate--is routine screening justified?

OBJECTIVE: To ascertain the prevalence of 22q11 deletion in children with a diagnosis of cleft lip and/or palate that had been referred to the Cleft Lip & Palate Service, Newcastle-upon-Tyne. DESIGN: Retrospective analysis of results of 22q11 FISH testing performed in all such referrals. PARTICIPANTS: 191 children, of whom 13 had a bilateral cleft lip and palate, two had a median cleft, 77 had a cleft palate only, 44 had a unilateral cleft lip, 47 had a unilateral cleft lip and palate and eight had a submucous cleft palate. RESULTS: nine patients had a positive 22q11 FISH test. CONCLUSION: This represents a higher percentage than has been previously reported. All children with cleft lip and/or palate should routinely have a 22q11 FISH test in view of the implications of a diagnosis of velocardiofacial syndrome.     

Isolated cleft of the ala nasi: A report of seven cases

Craniofacial clefts other than cleft lip & palate are reported to be 1.4 to 4.9 per 100,000 live births. Of these, clefts of nose are usually associated with other clefts. Isolated cleft of Ala is rare, 0.7% of all clefts reported by Monasterio. In an analysis of photographic records of 3,500 consecutive patients with craniofacial clefts including cleft lip & palate registered with us between 1985- 2012 which were accessed through our data base, 13 patients with nasal clefts were identified, seven out of which had Isolated cleft of the Ala. All were treated by a rotation flap of the Ala with good results with the longest follow up of 14Yrs. The authors have emphasised the rarity of the condition and presented a simple surgical procedure for correction. In the opinion of the authors this very simple procedure which can be performed by the junior surgeon gives a good long term result in the management of cleft Ala.KEY WORDS: Cleft of ala, cleft of nose, coloboma of ala, Tessier 1 and 2 clefts     

Two cases of cleft lip and palate with craniosynostosis (oxycephaly and scaphocephaly)

Summary Although syndromic cleft lip and palate is occasionally associated with other anomalies, even with craniosynostosis, non-syndromic cleft lip and palate is rarely seen with craniosynostosis. The morphogenesis of these two anomalies seems different, and combined cases are interesting to report. Two rare cases of the association of non-syndromic cleft lip and palate and craniosynostosis (one oxycephaly and the other scaphocephaly) which were operated on with a follow-up of 10 years and 2 years are described.     

Association between maternal diabetes mellitus and newborn oral cleft.

Diabetes mellitus has been implicated in several studies as a possible etiological factor of various congenital anomalies. Oral clefts are common congenital malformations that may severely affect the quality of life. The authors conducted a population-based case-control study using the 1996 National Center for Health Statistics United States Natality database to investigate whether maternal diabetes mellitus is a risk factor (p < 0.05) for having a newborn with an oral cleft. The patients consisted of 2,207 live births with cleft lip/palate, and the control subjects were 4,414 randomly selected live births, excluding those with other congenital defects. After adjusting for potential confounding variables, diabetic mothers were found to be 1.352 times (95% confidence interval, 1.004-1.821; p < 0.05) more likely than nondiabetic mothers to have a newborn with cleft lip/palate. In counseling expectant mothers, early glycemic control may be an important factor in decreasing the incidence of this congenital anomaly.     

Embryonic development of the head and neck: Part 3, the face

The embryology of the face is presented with respect to changes affecting the mandible, maxilla, upper and lower lips, palate, nose, and oral cavity. The embryonic development of the teeth and salivary glands is also included. Various facial clefts, including cleft lip and cleft palate, are discussed, in addition to some congenital anomalies affecting the nose and oral cavity.     

Development of a network system for the care of patients with cleft lip and palate in Thailand.

Cleft lip and palate are major public health concerns in Thailand, particularly in the north-east. The challenge for a developing country is to adapt to its unique environment the form of multidisciplinary care of patients with clefts in industrialised nations. An epidemiological study of the incidence of clefts was made by reviewing previous studies conducted in Thailand as a guide to development of a prospective multicentre study. As a result, a system for the care of patients with clefts has been developed by the Cleft Center in Khon Kaen University. The new aims of cleft care in Thailand are to establish and develop specialised cleft centres and supportive systems for interdisciplinary management, adopt protocols for long-term guidelines, provide education programmes about clefts, develop a database, and conduct relevant research projects. Other key factors in its success are the multicentre project, collaboration, fund raising, and good public relations.     

Development of a network system for the care of patients with cleft lip and palate in Thailand

Cleft lip and palate are major public health concerns in Thailand, particularly in the north‐east. The challenge for a developing country is to adapt to its unique environment the form of multidisciplinary care of patients with clefts in industrialised nations. An epidemiological study of the incidence of clefts was made by reviewing previous studies conducted in Thailand as a guide to development of a prospective multicentre study. As a result, a system for the care of patients with clefts has been developed by the Cleft Center in Khon Kaen University. The new aims of cleft care in Thailand are to establish and develop specialised cleft centres and supportive systems for interdisciplinary management, adopt protocols for long‐term guidelines, provide education programmes about clefts, develop a database, and conduct relevant research projects. Other key factors in its success are the multicentre project, collaboration, fund raising, and good public relations.     

Analysis of Potential Oral Cleft Risk Factors in the Kosovo Population

The aim of this study was to analyze the association of potential risk factors such as positive family cleft history, smoking, use of drugs during pregnancy, and parental age with oral clefts in offspring within the Kosovo population. We conducted a population-based case-control study of live births in Kosovo from 1996 to 2005. Using a logistic regression model, 244 oral cleft cases were compared with 488 controls. We have excluded all syndromic clefts. Heredity increases the risk of clefts in newborns [odds ratio (OR) = 8.25, 95% confidence interval (CI) 3.12–23.52]. Clefts were also associated with smoking (OR = 1.87, 95% CI 0.75–4.08), use of drugs during pregnancy (OR = 2.25, 95% CI 0.82–5.12), increasing maternal age (OR = 1.83, 95% CI 1.42–2.49), and increasing paternal age (OR = 1.3, 95% CI 1.2– 1.4). We found heredity to be the most important factor for cleft occurrence in Kosovar newborns. Another significant potential risk factor for occurrence of clefts is the parental age. We found the use of drugs and smoking during pregnancy to be less significant.Key words: Oral clefts, Cleft lip with or without cleft palate, Cleft palate only, Potential risk factors, Logistic regression model, Dummy variablesCleft lip with or without cleft palate and isolated cleft palate are the most common facial birth defects. The etiology involves complex interactions between genetic and environmental factors.¹ Genetic factors appear to create the most susceptibility for clefts. When environmental factors (i.e., triggers) interact with a genetically susceptible genotype, a cleft develops during an early stage of development.² The aim of this study was to analyze the association of potential risk factors such as positive family cleft history, smoking, use of drugs during pregnancy, and parental age with oral clefts in offspring in Kosovo. Risk factors vary among populations, and our ultimate goal was to provide data that may show new potential risk factors influencing the occurrence of clefts in Kosovo. With this new information, we hope to increase public awareness of such risks and thereby help reduce the incidence of cleft in Kosovo.     

Standardisation of cleft care--a technique for creating a three-dimensional model of the cleft lip, palate and nose.

The Royal College of Surgeons Cleft Steering Group and the Craniofacial Society of Great Britain and Ireland have recommended that, for patients with a cleft of the lip and/or palate, a model is made of the deformity before primary surgery. This provides a record for audit and can be used to compare the results of treatment. There is no standardisation in the way in which a model of the cleft deformity is made, which makes inter-unit comparison difficult. In this paper, we describe our technique for making a composite model of the cleft palate, lip and nose. This method is adaptable and quick to perform, and the models are easy to store.     

T4K矫治器矫治唇腭裂患者面中份发育不全的临床疗效观察

目的 探讨T4K矫治器矫治唇腭裂患者面中份发育不全的临床疗效.方法 选择6~12岁面中份发育不全的唇腭裂患儿12例,采用T4K矫治器进行矫治.结果 临床治疗12例唇腭裂患者,面中份骨骼均前移,面容大部分得到很大改善,其中6例患者咬合关系基本恢复正常,2例患者咬合关系为对刃关系,2例患者咬合关系为反(牙合)关系.结论 T...     

Multidisciplinary management of Opitz G BBB syndrome

Opitz G BBB syndrome is a rare condition characterized by the 3 major anomalies of hypertelorism, cleft lip and palate, and hypospadias, although there may be other associated anomalies. The underlying genetic causes are complex and consist of both X-linked recessive and autosomal dominant forms of the disorder. Previously, there have been publications on the underlying genetics and case reports, but there have been few reports regarding the long-term outcome. The aim in this study was to review the range of clinical presentation and evaluate outcomes of the multidisciplinary management of a cohort of patients with Opitz G BBB syndrome. In a 25-year period, 7 patients with Opitz G BBB syndrome were managed by the Australian Craniofacial Unit (ACFU), 5 male and 2 female. Most of the patients are now reaching skeletal maturity. Each one presented with a range of severity in the triad of hypertelorism, cleft lip and palate, and hypospadias anomalies. The males all exhibited the triad of anomalies, while the females both had hypertelorism, only 1 had isolated cleft palate, and neither had any genitourinary anomalies. Each patient underwent multidisciplinary assessment to make a treatment plan for staged management of different anomalies. Plan for surgical corrections of facial anomalies were performed according to the unit's protocol management of both hypertelorism and cleft lip and palate, but the presence of these coexisting anomalies required adjustment of the standard protocol of management of cleft lip and palate. In conclusion, we recommend that patients with Opitz G BBB syndrome require careful evaluation, and management of the anomalies should be in a coordinated manner by a multidisciplinary team.     

Cleft palate in spondyloepiphyseal dysplasia congenita: case reports

Cleft palate is one of the common features of spondyloepiphyseal dysplasia congenita (SEDC). However, there are few clinical data about cleft palate in SEDC. We report four patients with cleft palate and SEDC including two with overt cleft palate and two with submucous cleft palate. Our results suggested that SEDC associated with cleft palate should be treated in the same way as solitary cleft palate, and submucous cleft palate may be more common in patients with SEDC than previously appreciated.     

Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?

BACKGROUND:

It is well known that the incidence of nonsyndromal cleft lip and palate varies greatly according to ancestry: 0.3 to 0.4 per 1000 live births in blacks, one in 1000 in Caucasians, and two in 1000 in Asians and individuals from the central province of Saudi Arabia. Median cleft lip is a variable feature in oral-facial-digital syndrome type I (OFD-I).

OBJECTIVE:

To test the hypothesis that genetic factors may determine the lip phenotype in OFD-I patients.

METHODS:

A study involving 15 Saudi girls (from the central province of Saudi Arabia) with OFD-I showed a high rate (93.3%) of median cleft lip and palate. This rate in OFD-I patients is known to range from 33% to 56% in Caucasians and also known to be very low in blacks. The authors compared the rate of median cleft lip with or without cleft palate in the Arabian series (93.3%) with the rate in Caucasians and blacks.

RESULTS:

The difference in median cleft lip with or without cleft palate among the three groups was significant.

CONCLUSION:

This supports the hypothesis that ancestral genetic factors may determine the lip phenotype in OFD-I patients.     

Cleft palate in spondyloepiphyseal dysplasia congenita: case reports.

Cleft palate is one of the common features of spondyloepiphyseal dysplasia congenita (SEDC). However, there are few clinical data about cleft palate in SEDC. We report four patients with cleft palate and SEDC including two with overt cleft palate and two with submucous cleft palate. Our results suggested that SEDC associated with cleft palate should be treated in the same way as solitary cleft palate, and submucous cleft palate may be more common in patients with SEDC than previously appreciated.