Introduction: Cleft lip, palate and alveolar (CLPA) are congenital malformations of the face due to a defect in the fusion of embryonic buds during the first weeks of embryogenesis. These malformations affect the uppe...Introduction: Cleft lip, palate and alveolar (CLPA) are congenital malformations of the face due to a defect in the fusion of embryonic buds during the first weeks of embryogenesis. These malformations affect the upper lip, the alveolar bone and the palate. The incidence in Africa ranges from 1/2000 to 1/500 births. Their multidisciplinary management is long and costly. Thus, the help provided by humanitarian organisations during free care campaigns is welcome. Materials and Methods: This is a retrospective descriptive study conducted from August 2014 to July 2016 in the Maxillofacial Surgery and Stomatology Department of the Treichville University Hospital in Abidjan, Côte d’Ivoire. The objective was to describe the epidemiological, clinical and therapeutic aspects of CLPA during a humanitarian campaign for free care. Results: 51 cases of CLPA were operated on. Males were involved in 54.9% of the cases, i.e. a sex ratio of 1.2. The average age of the patients at the time of the operation was 3.44 years with extremes of 3 months and 52 years. Patients with low socioeconomic status represented 84.3% of the cases. Cleft lips (31.4%) and cleft palates (33.33%) predominated. For cleft lips, unilateral forms were the most frequent (73.5%) and the left side was most often affected (59.2%). The most common surgical techniques used were MILLARD cheiloplasty for cleft lips (79.36%) and Dorrance pushback for cleft palates (78.05%). The postoperative course was simple in the majority of cases (80.47%). Patients and/or parents were satisfied with the postoperative results in over 90% of cases. Discussion: Cleft lip and palate are common. Their management by humanitarian missions through mass campaigns allows us to receive a large number of patients affected by this pathology who are treated with a high satisfaction rate. Conclusion: The characteristics of cleft lip and palate in this study are in many respects identical to those described in the literature, but with some differences specific to Africa, notably the absence of antenatal diagnosis and the advanced age at the time of treatment.展开更多
Various surgical techniques and approaches have been described to repair cleft nose deformities. It is necessary to consider that since it is a congenital deformity, surgical management must consider the patient’s gr...Various surgical techniques and approaches have been described to repair cleft nose deformities. It is necessary to consider that since it is a congenital deformity, surgical management must consider the patient’s growth process, as well as the healing itself from the surgery. The present study aims to evaluate an alternative solution to secondary rhinology, aesthetic, and functional alterations to unilateral or bilateral cleft lift palate to minimize deformities and ensure good results. 11 patients were studied between 1995 to 2002, ten male and one female. In 8 cases, the patients had a history of cleft lip and palate on the left side, 2 patients with cleft lift palate on the right, and 1 patient with bilateral cleft lip and palate. 100% of the patients increased their naso-labial angle. This improved their appearance and structure, starting from a preoperative arithmetic mean of 39 degrees to a postoperative arithmetic mean of 96 degrees. Such intervention increased the naso-labial angle by 57 degrees. At the base of the nose, it was possible to improve the inclination of the alar line (line B) in 10 of the cases with a variation of 2 to 3 mm in relation to the perpendicular line A and only one case remained with the same inclination.展开更多
Cleft lip with or without cleft palate(CP) is one of the most common congenital malformations. Ultrasonographers involved in the routine 20-wk ultrasound screening could encounter these malformations. The face and pal...Cleft lip with or without cleft palate(CP) is one of the most common congenital malformations. Ultrasonographers involved in the routine 20-wk ultrasound screening could encounter these malformations. The face and palate develop in a very characteristic way. For ultrasonographers involved in screening these patients it is crucial to have a thorough understanding of the embryology of the face. This could help them to make a more accurate diagnosis and save time during the ultrasound. Subsequently, the current postnatal classification will be discussed to facilitate the communication with the CP teams.展开更多
Objective Convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) and low intake of folic acid by the mother during pregnancy. The present study was d...Objective Convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) and low intake of folic acid by the mother during pregnancy. The present study was designed to explore if genetic variation in the betaine‐homocysteine methyltransferase (BHMT) gene contributes to NSCL/P. Methods DNA was obtained from 166 individuals with NSCL/P and 285 healthy subjects. Three known single nucleotide polymorphisms (SNPs) present in the BHMT gene (rs651852, rs3797546, and rs3733890) were investigated by real‐time PCR‐based TaqMan genotyping. Results Neither allelic nor genotypic association was found between NSCL/P and SNPs rs651852 and rs3733890. SNP rs3797546 did not show allelic association with NSCL/P; however, a higher proportion of NSCL/P patients carry the CC genotype compared with the TT+CT genotype (P=0.020, OR=2.10, 95% CI=1.11‐3.95). Conclusion Our study suggests that polymorphism rs3797546 in the BHMT gene may confer genetic risk of NSCL/P in a recessive manner.展开更多
Objectives To identify the loci involved in nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Northern Chinese people in Shenyang by using genomewide and interaction linkage scan.Methods Two multiplex fa...Objectives To identify the loci involved in nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Northern Chinese people in Shenyang by using genomewide and interaction linkage scan.Methods Two multiplex families in Shenyang from North China were ascertained through probands with NSCL/P.Blood of every member was drawn for DNA extraction and analysis.Genotypes were available for 382 autosomal short tandem repeat (STR) markers from the ABI Prism Linkage Mapping Set version 2.5.Linkage between markers and NSCL/P was assessed by 2-point parametric LOD scores,multipoint heterogeneity parametric LOD scores (HLODs),and multipoint nonparametric linkage score (NPL).Results The initial scan suggested linkage on Chromosomes 1,2,and 15.In subsequent fine mapping,1q32-q42 showed a maximum multipoint LOD score of 1.9(empirical P=0.013) and an NPL score of 2.35 (empirical P=0.053).For 2p24-p25,the multipoint NPL increased to 2.94 (empirical P=0.007).2-locus interaction analysis obtained a maximum NPL score of 3.73 (P=0.00078) and a maximum LOD score of 3 for Chromosome 1 (at 221 cM) and Chromosome 2 (at 29 cM).Conclusion Both parametric and nonparametric linkage scores greatly increased over the initial linkage scores on 1q32-q42,suggesting a susceptibility locus in this region.Nonparametric linkage gave a strong evidence for a candidate region on chromosome 2p24-p25.The superiority of 2-locus linkage scores compared to single-locus scores gave additional evidence for linkage on 1q32-q42 and 2p24-p25,and suggested that certain genes in the two regions may contribute to NCSL/P risks with interaction.展开更多
<strong>Objective:</strong> To compare the congenital tooth deficiencies seen in permanent dentition in individuals with unilateral cleft lip and palate (UCLP) to non-cleft individuals with Angle Class I m...<strong>Objective:</strong> To compare the congenital tooth deficiencies seen in permanent dentition in individuals with unilateral cleft lip and palate (UCLP) to non-cleft individuals with Angle Class I malocclusion. <strong>Method:</strong> The study was performed on orthopantomograph films of 50 individuals with UCLP aged between 12 - 16 years and 50 individuals with Angle Class I malocclusion individuals aged between 13 - 15 years. Individuals with UCLP;32 clefts were on the left side and 18 clefts were on the right side. Permanent third molar teeth deficiency was excluded from the study. <strong>Results: </strong>In 50 individuals with UCLP;35 (70%) upper lateral incisors were congenitally deficient in the cleft area, while 15 (30%) missing lateral teeth were found in the non-cleft side. In control group, 12 (24%) of 50 patients had congenital lateral incisor deficiency. Congenital deficiency of upper lateral incisor in UCLP;the cleft area was higher than the non-cleft side (p < 0.01). The difference was statistically important when compared with the control group (p < 0.001). In 50 individuals with UCLP;while 27 (54%) of second premolar teeth were congenitally deficient in cleft side, 23 (46%) were missing in non-cleft side. In control group, 18 (36%) congenital second premolar deficiency was detected. However, second premolar congenital deficiency was higher in UCLP group when compared to control group (p < 0.01). <strong>Conclusion:</strong> The deficiency of the lateral incisors in the cleft side is more often congenitally deficient than upper second premolar teeth and this should be considered in the treatment planning from an early age.展开更多
Introduction: Non-Syndromic Clefts Lip-Palates (NSCLP/CP) are most common congenital malformation in the world, with very important psychic and social impact. Formation of NSCLP/CP arises from the interaction of envir...Introduction: Non-Syndromic Clefts Lip-Palates (NSCLP/CP) are most common congenital malformation in the world, with very important psychic and social impact. Formation of NSCLP/CP arises from the interaction of environmental and genetic factors. This paper provides a review of recent progress in defining the genetic causes of NSCLP. Methods: A literature review was conducted on the Medline data by searching for the following keywords: genes, non-syndromic cleft lip-palate, and genetics of clefts lip-palates, until January 2018. Results: Various genes are identified in different population and country, with the study using case parent’s trio. The aim of this study contributes to review relative gene which has been identify in non-syndromic cleft lip and palate, and to help to have a better understanding of the inheritance pattern of this pathology and the prevention of genetic disease. Conclusion: Although three major genes have been confirmed, the genetic research is necessary to provide an understanding of the pathophysiology of the clefts lip-palates.展开更多
Background: Cleft lip and/or palate are the most common orofacial malformations. Many studies, especially in developed countries have been conducted on this malformation, but in Burkina Faso, data are scarce and they ...Background: Cleft lip and/or palate are the most common orofacial malformations. Many studies, especially in developed countries have been conducted on this malformation, but in Burkina Faso, data are scarce and they are not specific to children. The aim of this study was to report the epidemiological, clinical and therapeutic aspects of cleft lip and/or palate in children in a low-income country. Materials and Method: The authors conducted a retrospective descriptive study based on data of three humanitarian missions of pediatric reconstructive facial surgery which took place in 2007, 2010 and 2014 at Clinique El Fateh-Suka in Ouagadougou, Burkina Faso. All children of 0 - 14 years of age, presenting with cleft lip and/or palate, were included in the study. Results: A total of 185 cases of cleft lip and/or palate were seen during these three humanitarian surgery missions. There were 100 boys and 85 girls. The average age of the children was 2.4 ± 3.2 years [0 - 12 years];there were 8.7% newborns. The commonest type of cleft was cleft lip and palate (49.7%) followed by isolated cleft lip (48.7%) and isolated cleft palate (1.6%). The left side was the most affected (49.2%). In 21.1% of cases, clefts were associated with other congenital malformations. In total, 150 of 185 (81.1%) children underwent surgery and there were no postoperative complications reported. Conclusions: Epidemiological and clinical characteristics of cleft lip and/or palate observed in this study are not very different from those described elsewhere in Africa. However, in our conditions, there are circumstances and structural factors which hinder the diagnosis and constitute challenges that must be addressed for adequate management of this congenital, highly disfiguring malformation.展开更多
Aim: Maxillary dental arch widths were evaluated in individuals having unilateral (UCLP) and bilateral (BCLP) cleft lip and palate (CLP) using three-dimensional (3D) digital models. Material and Method: The study had ...Aim: Maxillary dental arch widths were evaluated in individuals having unilateral (UCLP) and bilateral (BCLP) cleft lip and palate (CLP) using three-dimensional (3D) digital models. Material and Method: The study had been conducted on 80 individuals aged between 14 - 17 years having UCLP and BCLP. 40 of the individuals had UCLP, whereas 40 had BCLP. The maxillary dental models taken from patients before the treatment were scanned using Orthomodel Programme (v.1.01, Orthomodel Inc., Istanbul, Turkey) to obtain 3D imagery. Student’s t-test was used in order to assess the data obtained by using SPSS software version 22.0. Results: In BCLP, the average inter-canine distance was 17.44 ± 1.31 mm, the average inter-molar distance was 36.57 ± 1.12 mm, while inter-canine/inter-molar ratio was 0.47. Whereas in UCLP, it was 25.10 ± 0.63 mm, 42.20 ± 0.53 mm and 0.59. The inter-canine distance in UCLP was found to be large enough to be statistically significant (p 0.05), even though there were differences in inter-molar widths. Conclusion: For the stable orthodontic treatment results, one of the most important points is arch form and widths to be coherent with each other. In our study, the increase of inter-canine distance seen in UCLP indicates that in the cleft region, the maxillary arch is inclined over to the back, while the same situation in BCLP suggests that the maxillary segments are collapsed inside. The difference in the arch is highly affected by the primary surgical treatment.展开更多
Objectives: We report our experience and the protocol we used in managing maxillary hypoplasia in cleft lip and palate patients. Patients and methods: 14 adult cleft lip and palate patients with maxillary hypoplasia w...Objectives: We report our experience and the protocol we used in managing maxillary hypoplasia in cleft lip and palate patients. Patients and methods: 14 adult cleft lip and palate patients with maxillary hypoplasia were evaluated clinically. Dental models and radiographs including (lateral cephalograms and orthopantographs) were obtained at the initial visit and upon completion of the presurgical orthodontic treatment. Patients with occlusal discrepancies larger than 6 mm and severe palatal scaring underwent Distraction osteogenesis (DO) to advance the maxilla. Patients with an occlusal discrepancy of 6 mm or less, underwent traditional orthognathic surgery including le fort I advancement and Bilateral sagittal split osteotomy (BSSO) to seat the mandible in occlusion. Results: Five patients underwent orthognathic surgery. Two of them underwent double jaw surgery. Three underwent single jaw conventional le fort l advancement. Four patients required bone grafting to repair the residual alveolar defect and to augment the midface deficiency. Nine patients with severe maxillary hypoplasia underwent maxillary advancement using distraction osteogenesis. Conclusion: Patients with a severe maxillary hypoplasia of 6 mm or more and excessive palatal scaring are successfully treated with DO. Conventional le fort I is reserved for patients with less severe maxillary hypoplasia. Both techniques gave promising results providing having followed the proper selection criteria.展开更多
Gastroschisis is a malformation of the abdominal wall like omphalocele. In most cases, gastroschisis is isolated. But in some cases, we find malformations, essentially minor and concern gastrointestinal or genitourina...Gastroschisis is a malformation of the abdominal wall like omphalocele. In most cases, gastroschisis is isolated. But in some cases, we find malformations, essentially minor and concern gastrointestinal or genitourinary systems. Association with craniofacial congenital midline defects is uncommon. We report 3 cases of association between gastroschisis and cleft lip and palate for the benefit of the scientific community. Two 0-day-old and a 1-day newborns were admitted in our institution for malformation of face and abdominal wall. The physical examination confirmed the association of gastroschisis and cleft lip and palate. The patients underwent primary closure. Other malformations could not be sought until all patients died.展开更多
Purpose: To evaluate the skeletal changes associated with maxillary advancement using the external rigid distractor in cleft lip and palate patients after distraction and to assess the stability of these changes. Pati...Purpose: To evaluate the skeletal changes associated with maxillary advancement using the external rigid distractor in cleft lip and palate patients after distraction and to assess the stability of these changes. Patients and Methods: Eight cleft lip and palate patients with maxillary hypoplasia underwent maxillary distraction osteogenesis using external rigid devise. Lateral cephalometric records were obtained before distraction T1 and after completing active distraction T2. After a three month follow up period a final lateral cephalometric record was evaluated T3. Results: The maxilla was significantly advanced as indicated by the increase in maxillary depth angle and effective maxillary length (median difference, 10 mm). The palatal plane angle showed a significant increase (median difference, 5o), showing clockwise rotation. At T3 there was a slight decrease in maxillary depth angle (median difference, 3o). Effective maxillary length decreased significantly at T3 (median difference, 2 mm). The palatal plane angle decreased (median difference, 3o) and almost returned to its original position, showing a counterclockwise rotation. Conclusion: Maxillary advancement using external rigid distractor resulted in clockwise rotation of maxilla with increase in palatal plane angle and slight increase in mandibular plane angle. The amount of maxillary advancement was slightly reduced during follow up and the palatal plane almost returned to its original position. These changes showed good stable clinical results.展开更多
The purpose of this study was to assess the alveolar defect volume in unilateral cleft lip and palate (UCLP) subjects using computed tomography (CT) and a free software program to evaluate the intra- and inter-rater m...The purpose of this study was to assess the alveolar defect volume in unilateral cleft lip and palate (UCLP) subjects using computed tomography (CT) and a free software program to evaluate the intra- and inter-rater measurements, and to compare the cleft volume between age and affected side. The sample of this retrospective study consisted of 20 UCLP individuals, 12 boys and 8 girls, mean age 10.3 ± 2.4 years at the beginning of orthodontic treatment. All subjects required alveolar bone grafting. CT scans of the cleft area were obtained prior to secondary bone grafting, and were analyzed using Image J. software program. The cleft volume was calculated based on axial cross-sectional CT images by two raters (orthodontist and radiologist) and by the same rater (orthodontist) at two different moments. Linear mixed model, Bland-Altman, Pearson’s and intraclass correlation coefficient (ICC) were used. The mean cleft volume was 7.53 ± 1.55 mm3. The intra- and inter-rater measurements were reproducible (ICC = 0.976 and 0.963, respectively) with no significant difference between them. There were no statistically significant differences in the cleft volume related to age or cleft location. The assessment of cleft volume in UCLP using CT images and a free software program was a reproducible method. There was no significant relation between alveolar defect volume and age or cleft location.展开更多
Aim Malonyl-CoA is regarded as a key signaling molecule in mammalian cells.It is converted to acetyl-CoA,and to a lesser extent,to malonyl acid and malonylcarnitine(C3DC).Availability of carnitine has been reported to...Aim Malonyl-CoA is regarded as a key signaling molecule in mammalian cells.It is converted to acetyl-CoA,and to a lesser extent,to malonyl acid and malonylcarnitine(C3DC).Availability of carnitine has been reported to be essential for the developing fetus.The objectives of the present study were to analyze associations of malonylcarnitine,acetyl-carnitine(C2),and free carnitine(C0) in subjects with orofacial clefts.Methodology We performed a retrospective analysis of carnitine concentration obtained from a newborn screening program carried out in our institution.Concentrations of whole blood malonylcarnitine,acetylcarnitine,and free carnitine were measured using tandem mass spectrometry.The study group consisted of 51 children with non-syndromic cleft lip with or without cleft palate.In total,106 healthy children without congenital anomalies served as controls.Cut-off points were established using likeli-hood ratio values.Results The mean concentration of malonylcarnitine in the cleft group was lower than that of the control group,0.048 μmol·L-1 vs.0.058 μmol·L-1,respectively(P=0.009).In patients with orofacial cleft,low malonylcarnitine levels(≤0.047 μmol·L-1) were 1.7 times more predominant than in healthy individuals(P=0.03).The mean concentration of acetylcarnitine was also lower in affected newborns in comparison to controls,33.8 μmol·L-1 vs.37.8 μmol·L-1,respectively(P=0.026).After analysis of acetylcarnitine and free carnitine concentrations,the likelihood ratio test did not indicate valuable cut-off points.Conclusion The study provides initial data indicating a potential association between decreased malonylcarnitine and abnormal palatogenesis.展开更多
Purpose: To measure the upper airway changes associated with maxillary distraction osteogenesis in cleft lip and palate patients in the immediate post operative period and 12 months later. Materials and Methods: Seven...Purpose: To measure the upper airway changes associated with maxillary distraction osteogenesis in cleft lip and palate patients in the immediate post operative period and 12 months later. Materials and Methods: Seven patients with repaired cleft lip and palate (CLP) presented with severe maxillary hypoplasia. They were examined initially at T1 predistraction phase. Records taken included radiographs (orthopantograms OPG, lateral cephalometric, posteroanterior). Cephalometric analysis was done to evaluate the upper airway. Mean age is 17 years and the reverse overjet > 6 mm. They underwent maxillary Le Fort I distraction using external rigid distracters (RED). Cephalometric analysis to evaluate the upper airway was repeated at the end of the consolidation phase T2 and twelve months after distractor removal T3. Results: The range of maxillary advancement was between 8 - 15 mm (mean 9 mm). The anteroposterior distance of the superior velopharynx (PPS) and middle velopharynx (SPPS) increased at T2. A small amount of reduction in these values was recorded at T3. The inferior velopharynx (MPS) and the oropharynx (IPS, EPS) showed minimum increase in anteroposterior distance in only two patients at T2 and no change at T3. Conclusion: All seven patients showed clinical improvement in the upper airway and an increase in the upper airway values on lateral cephalometric radiographs.展开更多
All of 1055 cleft-lip and/or cleft-palate cases with their 1055 families were investigated. As the results." the incidence of siblings of propositi is 2.2% (39/1791). The incidences of the first, second and third...All of 1055 cleft-lip and/or cleft-palate cases with their 1055 families were investigated. As the results." the incidence of siblings of propositi is 2.2% (39/1791). The incidences of the first, second and third degree relatives were 1.53% (60/3927), 0.22% (25/11359), 0.30% (31/10296) respectively. In 17 cases, either of propositi’s parents had cleft, the incidence of cleft among propositi’s siblings was 9.52% (2/21). In 34 cases, the incidence of rest propositi’s siblings beyond those whose one sib had cleft or more is 5% (4/80), whereas both their parents were normal. Based on above, all incidences of different order relatives were higher than population ones. Furthermore, it is demonstrable that the closer the consanguinity is, the higher the incidence is, and if there was cleft in one family, the incidence increased obviously among his siblings or children, revealing apparent family tendency. In this group, the heritability is 46.80%.展开更多
Congenital cleft lip palate occurs heterogeneously worldwide. Out of the one-hundred and thirty million newborns worldwide, 3.6 million identified with a disability, 7.6 million (approximately 5.8%) being born with a ...Congenital cleft lip palate occurs heterogeneously worldwide. Out of the one-hundred and thirty million newborns worldwide, 3.6 million identified with a disability, 7.6 million (approximately 5.8%) being born with a congenital anomaly. Additionally, 7.5% of them are registered with having cleft lip palate. In Mongolia, the statistics from the Mongolia Health Department reported that in 2012 cleft lip palate occurred among 1 out of 1072 individuals in Mongolia [1]. Over the years, there have been many measures taken to ameliorate these issues around the world. Recently, the sophisticated three-dimensional ultra-sonography equipment is evaluable in pediatric science. Thanks to this equipment, we are able to detect the orofacial defects and diagnose infants properly in advance. The purpose of this study is to evaluate the lip and palate of a fetus by using three-dimensional ultra-sonography in the second and third trimester of gestational period. Our research aims to detect fetus defects in the early stage of birth and diagnose it in advance [9]. Due to the lack of research on the above-mentioned issues in Mongolia, we decided to conduct this research by using three-dimensional ultra-sonography to detect and diagnose congenital cleft lip palate. By doing this research, we will be able to better assist those suffering from congenital malformation in Mongolia.展开更多
Background: Cleft lip and palate (CLP) is one of the most prevalent congenital malformations affecting the face worldwide, with high prevalence in Asians, Americans, and Caucasians and low in Africans. Orofacial Cleft...Background: Cleft lip and palate (CLP) is one of the most prevalent congenital malformations affecting the face worldwide, with high prevalence in Asians, Americans, and Caucasians and low in Africans. Orofacial Clefts (OFCs) are among the causes of perinatal death in Ghana. The children often experience difficulties in swallowing, feeding, and speaking. These children often face problems in cognition, education, and communication. Caregivers’ ignorance of treatment, poverty, and noncompliance with follow-up schedules are obstacles to optimal cleft care. Most studies focus on the incidence of cleft, but not much is known about caregivers’ expectations. Methodology: An exploratory qualitative study design was used for this research between October and November 2020. The study site was the Komfo Anokye Teaching Hospital, (KATH), Kumasi, Ghana. The respondents were recruited from the oral health clinic. Included in the study were all CLP caregivers attending the cleft clinic for the first time. Purposive sampling was used to select fifteen caregivers who met the inclusion criteria. Face-to-face interviews with a semi-structured interview guide were used to collect data. The data were analyzed using NVivo software. Three major themes and six sub-themes emerged from the data analysis using thematic analysis. Ethical clearance was obtained for data collection. Results: Most caregivers were expecting their babies to be operated on, and they were certain that the cleft would be repaired at the end of the treatment, but they were unfamiliar with the process and cost of treatment. Less than half of the caregivers reported that they were oblivious to what to expect the first time visiting but had hopes that the healthcare professionals would be able to close the cleft for their babies. Conclusion: The majority of the caregivers expressed fear and disappointment at the diagnosis of their child. Some caregivers were very scared to the level where they had to hide the babies from the public. Others reported being already in financial difficulties, so their children’s conditions would compound them.展开更多
Objective:Nonsyndromic cleft lip with or without cleft palate(NSCL/P) is a common birth defect with unclear etiology. Both genetic and environmental factors may contribute to NSCL/P. Many genes have been identified as...Objective:Nonsyndromic cleft lip with or without cleft palate(NSCL/P) is a common birth defect with unclear etiology. Both genetic and environmental factors may contribute to NSCL/P. Many genes have been identified as candidate genes associated with this disease. Interferon regulatory factor 6(IRF6) gene and transforming growth factor-a(TGFA) gene seem to be crucial in the predisposition of NSCL/P. Here we evaluated some single nucleotide polymorphisms(SNPs) loci of TGFA and IRF6 genes in Chinese nuclear families consisting of fathers,mothers and affected offspring with NSCL/P. Methods:Fifty patients of NSCL/P were confirmed by the plastic surgeons. They and their parents were included in the study,all with the informed consents. SNPs loci of TGFA and IRF6 genes were analyzed by microarray technology. Some PCR products were randomly chosen and sequenced to check microarray results. The distribution of gene type and allele frequency between patient group and parents group were compared. Then a Haplotype Relative Risk(HRR) and Transmis-sion Disequilibrium Test(TDT) were performed. Results:The sequences of randomly selected PCR products were all consistent with the microarray results. All loci were in Hardy-Weinberg equilibrium. There were no significant differences in the distribution of genotypes and alleles between patients and their parents. Using HRR and TDT analyses the V274I of IRF6 was associated with NSCL/P,while another SNP locus of IRF6 was not. Strong evidence of linkage disequilibrium was found between the 2 SNP loci of TGFA and disease with the HRR analysis,but not with the TDT analysis. Conclusion:Our study confirms the contribution of IRF6 in the etiology of NSCL/P in populations of Asian ancestry. The association of TGFA with NSCL/P requires further research.展开更多
文摘Introduction: Cleft lip, palate and alveolar (CLPA) are congenital malformations of the face due to a defect in the fusion of embryonic buds during the first weeks of embryogenesis. These malformations affect the upper lip, the alveolar bone and the palate. The incidence in Africa ranges from 1/2000 to 1/500 births. Their multidisciplinary management is long and costly. Thus, the help provided by humanitarian organisations during free care campaigns is welcome. Materials and Methods: This is a retrospective descriptive study conducted from August 2014 to July 2016 in the Maxillofacial Surgery and Stomatology Department of the Treichville University Hospital in Abidjan, Côte d’Ivoire. The objective was to describe the epidemiological, clinical and therapeutic aspects of CLPA during a humanitarian campaign for free care. Results: 51 cases of CLPA were operated on. Males were involved in 54.9% of the cases, i.e. a sex ratio of 1.2. The average age of the patients at the time of the operation was 3.44 years with extremes of 3 months and 52 years. Patients with low socioeconomic status represented 84.3% of the cases. Cleft lips (31.4%) and cleft palates (33.33%) predominated. For cleft lips, unilateral forms were the most frequent (73.5%) and the left side was most often affected (59.2%). The most common surgical techniques used were MILLARD cheiloplasty for cleft lips (79.36%) and Dorrance pushback for cleft palates (78.05%). The postoperative course was simple in the majority of cases (80.47%). Patients and/or parents were satisfied with the postoperative results in over 90% of cases. Discussion: Cleft lip and palate are common. Their management by humanitarian missions through mass campaigns allows us to receive a large number of patients affected by this pathology who are treated with a high satisfaction rate. Conclusion: The characteristics of cleft lip and palate in this study are in many respects identical to those described in the literature, but with some differences specific to Africa, notably the absence of antenatal diagnosis and the advanced age at the time of treatment.
文摘Various surgical techniques and approaches have been described to repair cleft nose deformities. It is necessary to consider that since it is a congenital deformity, surgical management must consider the patient’s growth process, as well as the healing itself from the surgery. The present study aims to evaluate an alternative solution to secondary rhinology, aesthetic, and functional alterations to unilateral or bilateral cleft lift palate to minimize deformities and ensure good results. 11 patients were studied between 1995 to 2002, ten male and one female. In 8 cases, the patients had a history of cleft lip and palate on the left side, 2 patients with cleft lift palate on the right, and 1 patient with bilateral cleft lip and palate. 100% of the patients increased their naso-labial angle. This improved their appearance and structure, starting from a preoperative arithmetic mean of 39 degrees to a postoperative arithmetic mean of 96 degrees. Such intervention increased the naso-labial angle by 57 degrees. At the base of the nose, it was possible to improve the inclination of the alar line (line B) in 10 of the cases with a variation of 2 to 3 mm in relation to the perpendicular line A and only one case remained with the same inclination.
文摘Cleft lip with or without cleft palate(CP) is one of the most common congenital malformations. Ultrasonographers involved in the routine 20-wk ultrasound screening could encounter these malformations. The face and palate develop in a very characteristic way. For ultrasonographers involved in screening these patients it is crucial to have a thorough understanding of the embryology of the face. This could help them to make a more accurate diagnosis and save time during the ultrasound. Subsequently, the current postnatal classification will be discussed to facilitate the communication with the CP teams.
基金supported by the National Natural Science Foundation of China (grant number 307009907)Beijing Natural Science Foundation (grant number 7082038)Beijing Foundation for Excellent Elite (grant number 2010D003034000013)
文摘Objective Convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) and low intake of folic acid by the mother during pregnancy. The present study was designed to explore if genetic variation in the betaine‐homocysteine methyltransferase (BHMT) gene contributes to NSCL/P. Methods DNA was obtained from 166 individuals with NSCL/P and 285 healthy subjects. Three known single nucleotide polymorphisms (SNPs) present in the BHMT gene (rs651852, rs3797546, and rs3733890) were investigated by real‐time PCR‐based TaqMan genotyping. Results Neither allelic nor genotypic association was found between NSCL/P and SNPs rs651852 and rs3733890. SNP rs3797546 did not show allelic association with NSCL/P; however, a higher proportion of NSCL/P patients carry the CC genotype compared with the TT+CT genotype (P=0.020, OR=2.10, 95% CI=1.11‐3.95). Conclusion Our study suggests that polymorphism rs3797546 in the BHMT gene may confer genetic risk of NSCL/P in a recessive manner.
基金supported by National Natural Science Foundation of China (the research to identify susceptibility genes of nonsyndromic cleft lip and/or palates, 30600676)Program for New Century Excellent Talents of the Ministry of Education of China (NCET-07-0034)
文摘Objectives To identify the loci involved in nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Northern Chinese people in Shenyang by using genomewide and interaction linkage scan.Methods Two multiplex families in Shenyang from North China were ascertained through probands with NSCL/P.Blood of every member was drawn for DNA extraction and analysis.Genotypes were available for 382 autosomal short tandem repeat (STR) markers from the ABI Prism Linkage Mapping Set version 2.5.Linkage between markers and NSCL/P was assessed by 2-point parametric LOD scores,multipoint heterogeneity parametric LOD scores (HLODs),and multipoint nonparametric linkage score (NPL).Results The initial scan suggested linkage on Chromosomes 1,2,and 15.In subsequent fine mapping,1q32-q42 showed a maximum multipoint LOD score of 1.9(empirical P=0.013) and an NPL score of 2.35 (empirical P=0.053).For 2p24-p25,the multipoint NPL increased to 2.94 (empirical P=0.007).2-locus interaction analysis obtained a maximum NPL score of 3.73 (P=0.00078) and a maximum LOD score of 3 for Chromosome 1 (at 221 cM) and Chromosome 2 (at 29 cM).Conclusion Both parametric and nonparametric linkage scores greatly increased over the initial linkage scores on 1q32-q42,suggesting a susceptibility locus in this region.Nonparametric linkage gave a strong evidence for a candidate region on chromosome 2p24-p25.The superiority of 2-locus linkage scores compared to single-locus scores gave additional evidence for linkage on 1q32-q42 and 2p24-p25,and suggested that certain genes in the two regions may contribute to NCSL/P risks with interaction.
文摘<strong>Objective:</strong> To compare the congenital tooth deficiencies seen in permanent dentition in individuals with unilateral cleft lip and palate (UCLP) to non-cleft individuals with Angle Class I malocclusion. <strong>Method:</strong> The study was performed on orthopantomograph films of 50 individuals with UCLP aged between 12 - 16 years and 50 individuals with Angle Class I malocclusion individuals aged between 13 - 15 years. Individuals with UCLP;32 clefts were on the left side and 18 clefts were on the right side. Permanent third molar teeth deficiency was excluded from the study. <strong>Results: </strong>In 50 individuals with UCLP;35 (70%) upper lateral incisors were congenitally deficient in the cleft area, while 15 (30%) missing lateral teeth were found in the non-cleft side. In control group, 12 (24%) of 50 patients had congenital lateral incisor deficiency. Congenital deficiency of upper lateral incisor in UCLP;the cleft area was higher than the non-cleft side (p < 0.01). The difference was statistically important when compared with the control group (p < 0.001). In 50 individuals with UCLP;while 27 (54%) of second premolar teeth were congenitally deficient in cleft side, 23 (46%) were missing in non-cleft side. In control group, 18 (36%) congenital second premolar deficiency was detected. However, second premolar congenital deficiency was higher in UCLP group when compared to control group (p < 0.01). <strong>Conclusion:</strong> The deficiency of the lateral incisors in the cleft side is more often congenitally deficient than upper second premolar teeth and this should be considered in the treatment planning from an early age.
文摘Introduction: Non-Syndromic Clefts Lip-Palates (NSCLP/CP) are most common congenital malformation in the world, with very important psychic and social impact. Formation of NSCLP/CP arises from the interaction of environmental and genetic factors. This paper provides a review of recent progress in defining the genetic causes of NSCLP. Methods: A literature review was conducted on the Medline data by searching for the following keywords: genes, non-syndromic cleft lip-palate, and genetics of clefts lip-palates, until January 2018. Results: Various genes are identified in different population and country, with the study using case parent’s trio. The aim of this study contributes to review relative gene which has been identify in non-syndromic cleft lip and palate, and to help to have a better understanding of the inheritance pattern of this pathology and the prevention of genetic disease. Conclusion: Although three major genes have been confirmed, the genetic research is necessary to provide an understanding of the pathophysiology of the clefts lip-palates.
文摘Background: Cleft lip and/or palate are the most common orofacial malformations. Many studies, especially in developed countries have been conducted on this malformation, but in Burkina Faso, data are scarce and they are not specific to children. The aim of this study was to report the epidemiological, clinical and therapeutic aspects of cleft lip and/or palate in children in a low-income country. Materials and Method: The authors conducted a retrospective descriptive study based on data of three humanitarian missions of pediatric reconstructive facial surgery which took place in 2007, 2010 and 2014 at Clinique El Fateh-Suka in Ouagadougou, Burkina Faso. All children of 0 - 14 years of age, presenting with cleft lip and/or palate, were included in the study. Results: A total of 185 cases of cleft lip and/or palate were seen during these three humanitarian surgery missions. There were 100 boys and 85 girls. The average age of the children was 2.4 ± 3.2 years [0 - 12 years];there were 8.7% newborns. The commonest type of cleft was cleft lip and palate (49.7%) followed by isolated cleft lip (48.7%) and isolated cleft palate (1.6%). The left side was the most affected (49.2%). In 21.1% of cases, clefts were associated with other congenital malformations. In total, 150 of 185 (81.1%) children underwent surgery and there were no postoperative complications reported. Conclusions: Epidemiological and clinical characteristics of cleft lip and/or palate observed in this study are not very different from those described elsewhere in Africa. However, in our conditions, there are circumstances and structural factors which hinder the diagnosis and constitute challenges that must be addressed for adequate management of this congenital, highly disfiguring malformation.
文摘Aim: Maxillary dental arch widths were evaluated in individuals having unilateral (UCLP) and bilateral (BCLP) cleft lip and palate (CLP) using three-dimensional (3D) digital models. Material and Method: The study had been conducted on 80 individuals aged between 14 - 17 years having UCLP and BCLP. 40 of the individuals had UCLP, whereas 40 had BCLP. The maxillary dental models taken from patients before the treatment were scanned using Orthomodel Programme (v.1.01, Orthomodel Inc., Istanbul, Turkey) to obtain 3D imagery. Student’s t-test was used in order to assess the data obtained by using SPSS software version 22.0. Results: In BCLP, the average inter-canine distance was 17.44 ± 1.31 mm, the average inter-molar distance was 36.57 ± 1.12 mm, while inter-canine/inter-molar ratio was 0.47. Whereas in UCLP, it was 25.10 ± 0.63 mm, 42.20 ± 0.53 mm and 0.59. The inter-canine distance in UCLP was found to be large enough to be statistically significant (p 0.05), even though there were differences in inter-molar widths. Conclusion: For the stable orthodontic treatment results, one of the most important points is arch form and widths to be coherent with each other. In our study, the increase of inter-canine distance seen in UCLP indicates that in the cleft region, the maxillary arch is inclined over to the back, while the same situation in BCLP suggests that the maxillary segments are collapsed inside. The difference in the arch is highly affected by the primary surgical treatment.
文摘Objectives: We report our experience and the protocol we used in managing maxillary hypoplasia in cleft lip and palate patients. Patients and methods: 14 adult cleft lip and palate patients with maxillary hypoplasia were evaluated clinically. Dental models and radiographs including (lateral cephalograms and orthopantographs) were obtained at the initial visit and upon completion of the presurgical orthodontic treatment. Patients with occlusal discrepancies larger than 6 mm and severe palatal scaring underwent Distraction osteogenesis (DO) to advance the maxilla. Patients with an occlusal discrepancy of 6 mm or less, underwent traditional orthognathic surgery including le fort I advancement and Bilateral sagittal split osteotomy (BSSO) to seat the mandible in occlusion. Results: Five patients underwent orthognathic surgery. Two of them underwent double jaw surgery. Three underwent single jaw conventional le fort l advancement. Four patients required bone grafting to repair the residual alveolar defect and to augment the midface deficiency. Nine patients with severe maxillary hypoplasia underwent maxillary advancement using distraction osteogenesis. Conclusion: Patients with a severe maxillary hypoplasia of 6 mm or more and excessive palatal scaring are successfully treated with DO. Conventional le fort I is reserved for patients with less severe maxillary hypoplasia. Both techniques gave promising results providing having followed the proper selection criteria.
文摘Gastroschisis is a malformation of the abdominal wall like omphalocele. In most cases, gastroschisis is isolated. But in some cases, we find malformations, essentially minor and concern gastrointestinal or genitourinary systems. Association with craniofacial congenital midline defects is uncommon. We report 3 cases of association between gastroschisis and cleft lip and palate for the benefit of the scientific community. Two 0-day-old and a 1-day newborns were admitted in our institution for malformation of face and abdominal wall. The physical examination confirmed the association of gastroschisis and cleft lip and palate. The patients underwent primary closure. Other malformations could not be sought until all patients died.
文摘Purpose: To evaluate the skeletal changes associated with maxillary advancement using the external rigid distractor in cleft lip and palate patients after distraction and to assess the stability of these changes. Patients and Methods: Eight cleft lip and palate patients with maxillary hypoplasia underwent maxillary distraction osteogenesis using external rigid devise. Lateral cephalometric records were obtained before distraction T1 and after completing active distraction T2. After a three month follow up period a final lateral cephalometric record was evaluated T3. Results: The maxilla was significantly advanced as indicated by the increase in maxillary depth angle and effective maxillary length (median difference, 10 mm). The palatal plane angle showed a significant increase (median difference, 5o), showing clockwise rotation. At T3 there was a slight decrease in maxillary depth angle (median difference, 3o). Effective maxillary length decreased significantly at T3 (median difference, 2 mm). The palatal plane angle decreased (median difference, 3o) and almost returned to its original position, showing a counterclockwise rotation. Conclusion: Maxillary advancement using external rigid distractor resulted in clockwise rotation of maxilla with increase in palatal plane angle and slight increase in mandibular plane angle. The amount of maxillary advancement was slightly reduced during follow up and the palatal plane almost returned to its original position. These changes showed good stable clinical results.
文摘The purpose of this study was to assess the alveolar defect volume in unilateral cleft lip and palate (UCLP) subjects using computed tomography (CT) and a free software program to evaluate the intra- and inter-rater measurements, and to compare the cleft volume between age and affected side. The sample of this retrospective study consisted of 20 UCLP individuals, 12 boys and 8 girls, mean age 10.3 ± 2.4 years at the beginning of orthodontic treatment. All subjects required alveolar bone grafting. CT scans of the cleft area were obtained prior to secondary bone grafting, and were analyzed using Image J. software program. The cleft volume was calculated based on axial cross-sectional CT images by two raters (orthodontist and radiologist) and by the same rater (orthodontist) at two different moments. Linear mixed model, Bland-Altman, Pearson’s and intraclass correlation coefficient (ICC) were used. The mean cleft volume was 7.53 ± 1.55 mm3. The intra- and inter-rater measurements were reproducible (ICC = 0.976 and 0.963, respectively) with no significant difference between them. There were no statistically significant differences in the cleft volume related to age or cleft location. The assessment of cleft volume in UCLP using CT images and a free software program was a reproducible method. There was no significant relation between alveolar defect volume and age or cleft location.
文摘Aim Malonyl-CoA is regarded as a key signaling molecule in mammalian cells.It is converted to acetyl-CoA,and to a lesser extent,to malonyl acid and malonylcarnitine(C3DC).Availability of carnitine has been reported to be essential for the developing fetus.The objectives of the present study were to analyze associations of malonylcarnitine,acetyl-carnitine(C2),and free carnitine(C0) in subjects with orofacial clefts.Methodology We performed a retrospective analysis of carnitine concentration obtained from a newborn screening program carried out in our institution.Concentrations of whole blood malonylcarnitine,acetylcarnitine,and free carnitine were measured using tandem mass spectrometry.The study group consisted of 51 children with non-syndromic cleft lip with or without cleft palate.In total,106 healthy children without congenital anomalies served as controls.Cut-off points were established using likeli-hood ratio values.Results The mean concentration of malonylcarnitine in the cleft group was lower than that of the control group,0.048 μmol·L-1 vs.0.058 μmol·L-1,respectively(P=0.009).In patients with orofacial cleft,low malonylcarnitine levels(≤0.047 μmol·L-1) were 1.7 times more predominant than in healthy individuals(P=0.03).The mean concentration of acetylcarnitine was also lower in affected newborns in comparison to controls,33.8 μmol·L-1 vs.37.8 μmol·L-1,respectively(P=0.026).After analysis of acetylcarnitine and free carnitine concentrations,the likelihood ratio test did not indicate valuable cut-off points.Conclusion The study provides initial data indicating a potential association between decreased malonylcarnitine and abnormal palatogenesis.
文摘Purpose: To measure the upper airway changes associated with maxillary distraction osteogenesis in cleft lip and palate patients in the immediate post operative period and 12 months later. Materials and Methods: Seven patients with repaired cleft lip and palate (CLP) presented with severe maxillary hypoplasia. They were examined initially at T1 predistraction phase. Records taken included radiographs (orthopantograms OPG, lateral cephalometric, posteroanterior). Cephalometric analysis was done to evaluate the upper airway. Mean age is 17 years and the reverse overjet > 6 mm. They underwent maxillary Le Fort I distraction using external rigid distracters (RED). Cephalometric analysis to evaluate the upper airway was repeated at the end of the consolidation phase T2 and twelve months after distractor removal T3. Results: The range of maxillary advancement was between 8 - 15 mm (mean 9 mm). The anteroposterior distance of the superior velopharynx (PPS) and middle velopharynx (SPPS) increased at T2. A small amount of reduction in these values was recorded at T3. The inferior velopharynx (MPS) and the oropharynx (IPS, EPS) showed minimum increase in anteroposterior distance in only two patients at T2 and no change at T3. Conclusion: All seven patients showed clinical improvement in the upper airway and an increase in the upper airway values on lateral cephalometric radiographs.
文摘All of 1055 cleft-lip and/or cleft-palate cases with their 1055 families were investigated. As the results." the incidence of siblings of propositi is 2.2% (39/1791). The incidences of the first, second and third degree relatives were 1.53% (60/3927), 0.22% (25/11359), 0.30% (31/10296) respectively. In 17 cases, either of propositi’s parents had cleft, the incidence of cleft among propositi’s siblings was 9.52% (2/21). In 34 cases, the incidence of rest propositi’s siblings beyond those whose one sib had cleft or more is 5% (4/80), whereas both their parents were normal. Based on above, all incidences of different order relatives were higher than population ones. Furthermore, it is demonstrable that the closer the consanguinity is, the higher the incidence is, and if there was cleft in one family, the incidence increased obviously among his siblings or children, revealing apparent family tendency. In this group, the heritability is 46.80%.
文摘Congenital cleft lip palate occurs heterogeneously worldwide. Out of the one-hundred and thirty million newborns worldwide, 3.6 million identified with a disability, 7.6 million (approximately 5.8%) being born with a congenital anomaly. Additionally, 7.5% of them are registered with having cleft lip palate. In Mongolia, the statistics from the Mongolia Health Department reported that in 2012 cleft lip palate occurred among 1 out of 1072 individuals in Mongolia [1]. Over the years, there have been many measures taken to ameliorate these issues around the world. Recently, the sophisticated three-dimensional ultra-sonography equipment is evaluable in pediatric science. Thanks to this equipment, we are able to detect the orofacial defects and diagnose infants properly in advance. The purpose of this study is to evaluate the lip and palate of a fetus by using three-dimensional ultra-sonography in the second and third trimester of gestational period. Our research aims to detect fetus defects in the early stage of birth and diagnose it in advance [9]. Due to the lack of research on the above-mentioned issues in Mongolia, we decided to conduct this research by using three-dimensional ultra-sonography to detect and diagnose congenital cleft lip palate. By doing this research, we will be able to better assist those suffering from congenital malformation in Mongolia.
文摘Background: Cleft lip and palate (CLP) is one of the most prevalent congenital malformations affecting the face worldwide, with high prevalence in Asians, Americans, and Caucasians and low in Africans. Orofacial Clefts (OFCs) are among the causes of perinatal death in Ghana. The children often experience difficulties in swallowing, feeding, and speaking. These children often face problems in cognition, education, and communication. Caregivers’ ignorance of treatment, poverty, and noncompliance with follow-up schedules are obstacles to optimal cleft care. Most studies focus on the incidence of cleft, but not much is known about caregivers’ expectations. Methodology: An exploratory qualitative study design was used for this research between October and November 2020. The study site was the Komfo Anokye Teaching Hospital, (KATH), Kumasi, Ghana. The respondents were recruited from the oral health clinic. Included in the study were all CLP caregivers attending the cleft clinic for the first time. Purposive sampling was used to select fifteen caregivers who met the inclusion criteria. Face-to-face interviews with a semi-structured interview guide were used to collect data. The data were analyzed using NVivo software. Three major themes and six sub-themes emerged from the data analysis using thematic analysis. Ethical clearance was obtained for data collection. Results: Most caregivers were expecting their babies to be operated on, and they were certain that the cleft would be repaired at the end of the treatment, but they were unfamiliar with the process and cost of treatment. Less than half of the caregivers reported that they were oblivious to what to expect the first time visiting but had hopes that the healthcare professionals would be able to close the cleft for their babies. Conclusion: The majority of the caregivers expressed fear and disappointment at the diagnosis of their child. Some caregivers were very scared to the level where they had to hide the babies from the public. Others reported being already in financial difficulties, so their children’s conditions would compound them.
基金supported by the Medical Technology Development Foundation of Jiangsu Provincial Health Bureau of China (H200513)Changjiang Scholars and Innovative Research Team in University (IRT0631) and National 973 Program(2006CB944005)
文摘Objective:Nonsyndromic cleft lip with or without cleft palate(NSCL/P) is a common birth defect with unclear etiology. Both genetic and environmental factors may contribute to NSCL/P. Many genes have been identified as candidate genes associated with this disease. Interferon regulatory factor 6(IRF6) gene and transforming growth factor-a(TGFA) gene seem to be crucial in the predisposition of NSCL/P. Here we evaluated some single nucleotide polymorphisms(SNPs) loci of TGFA and IRF6 genes in Chinese nuclear families consisting of fathers,mothers and affected offspring with NSCL/P. Methods:Fifty patients of NSCL/P were confirmed by the plastic surgeons. They and their parents were included in the study,all with the informed consents. SNPs loci of TGFA and IRF6 genes were analyzed by microarray technology. Some PCR products were randomly chosen and sequenced to check microarray results. The distribution of gene type and allele frequency between patient group and parents group were compared. Then a Haplotype Relative Risk(HRR) and Transmis-sion Disequilibrium Test(TDT) were performed. Results:The sequences of randomly selected PCR products were all consistent with the microarray results. All loci were in Hardy-Weinberg equilibrium. There were no significant differences in the distribution of genotypes and alleles between patients and their parents. Using HRR and TDT analyses the V274I of IRF6 was associated with NSCL/P,while another SNP locus of IRF6 was not. Strong evidence of linkage disequilibrium was found between the 2 SNP loci of TGFA and disease with the HRR analysis,but not with the TDT analysis. Conclusion:Our study confirms the contribution of IRF6 in the etiology of NSCL/P in populations of Asian ancestry. The association of TGFA with NSCL/P requires further research.
