Association of MSX1 with Nonsyndromic Cleft Lip and Palate in a Colombian Population

2007 ◽  
Vol 44 (6) ◽  
pp. 653-656 ◽  
Author(s):  
Liliana Otero ◽  
Sandra Gutiérrez ◽  
Margarita Cháves ◽  
C. Vargas ◽  
Luis Bérmudez

Objective: To evaluate the association between MSX1 CA polymorphism and nonsyndromic cleft lip with or without cleft palate (CL±P) in a group of patients from Operation Smile Colombia. Design: Four alleles from MSX1 CA microsatellite sequence were analyzed. Polymerase chain reaction was carried out. The amplifications were performed by Short Tandem Repeats (STRs) in ABI PRISM 310 genetic analyzer. Chi-square and odds ratio tests were used to determine the association between genotype frequencies and the risk to the cleft lip/palate in a Colombian group population. Setting: Operation Smile Colombia. Participants: Ninety-four affected patients (49 men and 45 women with CL±P) and 93 control individuals (43 men and 50 women). Results: A significant statistical difference (p < .0106) was found between the patients who carried allele 3 and CL±P. In addition, allele 4 (heterozygous and homozygous form) was the most frequent in CL±P (74%) patients and in the control group (82%). Conclusions: These findings show a positive association between the MSX1 CA polymorphism and CL±P in a Colombian group population.

2017 ◽  
Vol 54 (5) ◽  
pp. 502-508 ◽  
Author(s):  
Trindade-Suedam Ivy Kiemle ◽  
Freire Lima Thiago ◽  
Dominguez Campos Letícia ◽  
Faria Yaedú Renato Yassutaka ◽  
Filho Hugo Nary ◽  
...  

Objective The objective of this study was to three-dimensionally evaluate the pharyngeal dimensions of individuals with complete nonsyndromic unilateral cleft lip and palate (UCLP) using cone beam computed tomography. Design This was a cross-sectional prospective study. Setting The study took place at the Laboratory of Physiology, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru-SP, Brazil. Patients and Participants The control group (CON) consisted of 23 noncleft adults with class III malocclusion, and the cleft group (UCLP) consisted of 22 individuals with UCLP and class III malocclusion. Two subgroups of individuals with class III malocclusion as a result of maxillary retrusion with (UCLP'; n = 19) and without (CON'; n = 8) clefts were also assessed. Interventions Pharyngeal volume, pharyngeal minimal cross-sectional area (CSA), location of CSA, pharyngeal length, sella-nasion-A point angle (SNA), sella-nasion-B point angle (SNB), and A point-nasion-B point angle (ANB), and body mass index were assessed using Dolphin software. Main Outcome Measure The pharyngeal dimensions of UCLP individuals are smaller when compared with controls. Results Mean pharyngeal volume (standard deviation) for the UCLP patients (20.8 [3.9] cm3) and the UCLP’ patients (20.3 [3.9] cm3) were significantly decreased when compared with the CON (28.2 [10.0] cm3) and CON’ patients (29.1 [10.2] cm3), respectively. No differences were found in the pharyngeal minimal CSA, ANB, or pharyngeal length values between groups (CON versus UCLP and CON’ versus UCLP'). CSAs were located mostly at the oropharynx, except in the UCLP’ patients, which were mainly at the hypopharynx. Mean SNA in the UCLP (76.4° [4.6°]) and UCLP’ groups (75.1 [3.1°]) were significantly smaller than those in the CON (82.8° [4.1°]) and CON’ groups (78.6° [1.2°]). SNB values were statistically smaller only for the comparison of CON versus UCLP patients. Conclusion The pharynx of individuals with UCLP and class III malocclusion is volumetrically smaller than that of individuals with class III malocclusion and no clefts.


2015 ◽  
Vol 26 (6) ◽  
pp. 561-565 ◽  
Author(s):  
Márcia Waltrick-Zambuzzi ◽  
Patricia Nivoloni Tannure ◽  
Thays Cristine dos Santos Vieira ◽  
Leonardo Santos Antunes ◽  
Fábio Lourenço Romano ◽  
...  

The aim of this study was to evaluate the association of the polymorphisms in TCN2 (rs1801198) gene and in MTRR (rs1801394) gene with nonsyndromic cleft lip and/or palate (NSCL/P) in a Brazilian population. Genomic DNA was extracted from buccal cells. The polymorphisms in TCN2 (rs1801198) and MTRR (rs1801394) genes were genotyped by carrying out real-time PCR and Taqman assay. Chi-square test was used to determine the association between genotype and allele frequencies with NSCL/P and NSCL/P subgroups (cleft lip only, cleft lip and palate, and cleft palate only). Eight hundred and sixty seven unrelated individuals (401 cases with NSCL/P and 466 individuals without cleft) were evaluated. Genotype distributions of TCN2 and MTRR polymorphisms were in Hardy-Weinberg equilibrium. The TCN2 polymorphic genotype GG was identified in 16.7% of the NSCL/P group and in 14.1% of the non-cleft group (p>0.05). Similarly, the frequency of MTRR genotype (GG) was similar in NSCL/P group (15.5%) and control group (17.8%) (p>0.05). Multivariate analysis showed an association between MTRR and the subgroup that the mother smoked during pregnancy (p=0.039). Our findings did not demonstrate an association between TCN2 polymorphisms and NSCL/P, however suggests an association between MTRR and NSCL/P etiology


RSBO ◽  
2017 ◽  
Vol 14 (2) ◽  
pp. 86-93
Author(s):  
Madiana Magalhães Moreira ◽  
Pedro Diniz Rebouças ◽  
Maria Lúcia Bonfim Chagas ◽  
Luan Cartaxo Félix ◽  
Paulo Goberlânio de Barros Silva ◽  
...  

Cleft lip and palate (CLP) is the most frequent congenital malformation among the anomalies of the head and neck. The orthopedic/orthodontic treatment is included in the rehabilitation of these individuals, however there is no consensus in the literature regarding the ideal time for its beginning. Objective: To verify and characterize the profile of individuals with CLP treated at a reference hospital of the northeast of Brazil from 1998 to 2013 and its association with the beginning of the orthopedic/ orthodontic treatment. Material and methods: Through direct observation of medical records, panoramic radiograph, and study casts of 323 individuals, data regarding sex, cleft type, origin and age of beginning of the orthopedic/orthodontic treatment were surveyed and analyzed using the chi-square test, considering a 5% level of significance. Results: Most of the individuals had transforamen and the unilateral cleft was the most prevalent (p<0.05). Females were statistically more affected by post-foramen cleft and males by trans-foramen cleft (p><0.05). Most individuals with trans-foramen cleft and post-foramen cleft started the orthopedic/ orthodontic treatment between 8 and 12 years old (p><0.05). No statistically significant differences occurred relating the beginning><0.05). Females were statistically more affected by post-foramen cleft and males by trans-foramen cleft (p<0.05). Most individuals with trans-foramen cleft and post-foramen cleft started the orthopedic/ orthodontic treatment between 8 and 12 years old (p<0.05). No statistically significant differences occurred relating the beginning> <0.05). No statistically significant differences occurred relating the beginning of the orthopedic/orthodontic treatment with geographic origin and sex of, although most of them have started treatment at late mixed dentition. Conclusion: Regardless of gender, origin, or cleft type, most patients started orthopedic treatment up to 12 years-old, an age considered ideal by most protocols. Unilateral and trans-foramen cleft were the most prevalent cleft types. post-foramen cleft affected more females, while trans-foramen cleft affected more males.


Author(s):  
Francisco Vale ◽  
Inês Francisco ◽  
António Lucas ◽  
Ana Roseiro ◽  
Francisco Caramelo ◽  
...  

Background: Cleft lip and palate (CLP) can affect the development of the maxilla; which may create a midfacial deficiency as well as an interference of the facial growth pattern and dentofacial esthetics. Objective: This study aimed to estimate the chronological age of complete fusion of the spheno-occipital synchondrosis (SOS) in cleft lip and palate patients and a control group; using cone beam computed tomography (CBCT) images. Methods: In this retrospective study; 125 patients were enrolled (cleft lip and palate group (n = 91); control group (n = 34)). Age comparison was made with a chi-square test; and a Kaplan–Meier analysis determined the median time to reach complete fusion of the spheno-occipital synchondrosis (p < 0.05). Results: The experimental group showed statistically significant differences in the median time for complete ossification between males and females (p = 0.019). The median time for complete ossification of the spheno-occipital synchondrosis was; for males; 15.0 years in both groups; for females; it was 14.0 years and 13.0 years in the experimental group and in the control group; respectively. Both for males and females; there were no statistically significant differences between experimental and control groups (p = 0.104). Conclusions: The present study showed no differences in the ossification of the spheno-occipital synchondrosis between individuals with and without cleft lip and/or palate.


2018 ◽  
Vol 56 (3) ◽  
pp. 349-356 ◽  
Author(s):  
Müesser Ahu Durhan ◽  
Nursen Topcuoglu ◽  
Guven Kulekci ◽  
Ege Ozgentas ◽  
Ilknur Tanboga

Objective: The aim of this study was to examine the microbiological changes in newborn babies with cleft lip palate from birth up to age 3 and to correlate them with their caries levels and mothers’ microbiological data and to compare with normal infants. Basic Research Design: Prospective. Settings: Marmara University, Faculty of Dentistry, Pediatric Dentistry Clinic, and Şişli Hamidiye Etfal Education and Research Hospital New Born Clinic. Patients/Participants: Cleft lip palate (n = 21) and healthy (n = 13) newborns and their mothers. Material and Methods: Intraoral samples were taken from babies in each group at least 3 times over the 3 years. Saliva samples of the mothers were collected just after the birth of the babies and examined microbiologically. Dental caries was noted as either present or absent. Results: The most frequent microorganisms were candida, found at birth (n = 9, 42%) in cleft palate with or without cleft lip (CP±L) group. The number of babies infected with Lactobacilli were found to be significantly higher in the CP±L group than in the control group at birth ( P = .029) and after eruption of the first primary tooth ( P = .030). Mutans Streptococci were found in 10% of babies with CP±L at birth. Initial caries was identified in 20% of the babies with an oral cleft compared with 0% of the controls after eruption of the first primary incisors. Conclusion: The results show that the CP±L babies must be considered as a group with an increased caries risk.


2020 ◽  
Vol 11 (SPL3) ◽  
pp. 1027-1031
Author(s):  
Joshini Shanmugam ◽  
Senthil Murugan P ◽  
Suresh V

Consanguinity is considered a significant factor in autosomal recessive diseases; it has also been associated with congenital anomalies such as hydrocephalus, polydactilia and Cleft Lip and Palate deformities. The risk of congenital conditions is higher in subjects born of first degree consanguineous parents compared with those of non-consanguineous marriages. The aim of this study is to evaluate the prevalence of consanguinity with formation of cleft lip/ cleft palate formation in Tamil, Telugu population. This is a retrospective study. The details of 86,000 patient records were reviewed and analysed, out of which 76 patients who had undergone surgical treatment for cleft lip and cleft palate deformities between June 2019 to march 2020 were included in this study. The details like age, gender, family history and cleft diagnosis were evaluated and entered in SPSS and analysed through a chi-square test. It was observed that 11% of patients reported with history of consanguineous marriages which was associated with formation of cleft lip/palate. Within the limits of the study, it was concluded that consanguinity had a significant role in formation of cleft lip/cleft palate.


2015 ◽  
Vol 20 (1) ◽  
pp. 79-84 ◽  
Author(s):  
Mariana Maciel Tinano ◽  
Milene Aparecida Torres Saar Martins ◽  
Cristiane Baccin Bendo ◽  
Ênio Mazzieiro

OBJECTIVE: The aim of the present study was to determine the morphological differences in the base of the skull of individuals with cleft lip and palate and Class III malocclusion in comparison to control groups with Class I and Class III malocclusion. METHODS: A total of 89 individuals (males and females) aged between 5 and 27 years old (Class I, n = 32; Class III, n = 29; and Class III individuals with unilateral cleft lip and palate, n = 28) attending PUC-MG Dental Center and Cleft Lip/Palate Care Center of Baleia Hospital and PUC-MG (CENTRARE) were selected. Linear and angular measurements of the base of the skull, maxilla and mandible were performed and assessed by a single calibrated examiner by means of cephalometric radiographs. Statistical analysis involved ANCOVA and Bonferroni correction. RESULTS: No significant differences with regard to the base of the skull were found between the control group (Class I) and individuals with cleft lip and palate (P > 0.017). The cleft lip/palate group differed from the Class III group only with regard to CI.Sp.Ba (P = 0.015). Individuals with cleft lip and palate had a significantly shorter maxillary length (Co-A) in comparison to the control group (P < 0.001). No significant differences were found in the mandible (Co-Gn) of the control group and individuals with cleft lip and palate (P = 1.000). CONCLUSION: The present findings suggest that there are no significant differences in the base of the skull of individuals Class I or Class III and individuals with cleft lip and palate and Class III malocclusion.


2010 ◽  
Vol 47 (1) ◽  
pp. 9-14 ◽  
Author(s):  
Arezoo Jahanbin ◽  
Naser Mahdavishahri ◽  
Mohammad Mahdi Naseri ◽  
Yasaman Sardari ◽  
Sareh Rezaian

Objectives To test the hypothesis that unaffected parents with nonsyndromic bilateral cleft lip and palate children possess greater levels of dermatoglyphic asymmetry than the normal population and to test for the difference in the distribution of pattern types. Design Case-control study. Setting Mashhad University of Medical Sciences, Mashhad, Iran. Participants Forty-five unaffected parents (45 men and 45 women) of children with nonfamilial bilateral cleft lip and palate anomaly were enlisted. A control group of 45 unaffected parents with at least two unaffected children and no prior family history of clefting were also simultaneously selected. Main Outcome Measures Palm prints and fingerprints were taken from each participant, and total ridge counts, atd angles, and pattern types were determined. For each of the three dermatoglyphic measures, asymmetry scores between right and left hands were defined, and then asymmetry scores of unaffected parents and pattern types were compared statistically with the controls, using Mann-Whitney and chi-square tests. Results In contrast to total ridge count asymmetry, the asymmetry of atd angles in unaffected parents and the asymmetry of patterns (in unaffected mothers) were significantly higher in comparison with the controls. Furthermore, unaffected fathers had significantly more arches than the controls, but there were no significant differences in dermatoglyphic patterns of unaffected mothers and the controls. Conclusion The findings suggest that an increase in the asymmetry of atd angles and pattern types in parents of sporadically affected children may reflect more the genetic base of this congenital malformation.


2019 ◽  
Vol 57 (3) ◽  
pp. 364-370
Author(s):  
Hande Gorucu-Coskuner ◽  
Banu Saglam-Aydinatay ◽  
Muge Aksu ◽  
Fatma Figen Ozgur ◽  
Tulin Taner

Objective: To compare the prevalence of increased risk of obstructive sleep apnea (OSA) in children with and without cleft lip and/or palate using a previously validated questionnaire and to examine the clinical and demographic variables that may lead to increased OSA risk. Design: Prospective, cross-sectional study. Participants: One hundred fifty-five cleft lip palate and 155 noncleft children between 2 and 18 years old. Interventions: The Pediatric Sleep Questionnaire (PSQ): Sleep Related Breathing Disorder Scale was used for screening of increased OSA risk. Age, body mass index (BMI), gender, breast-feeding, and bottle-feeding durations were recorded for all patients. Cleft type, lip and palate operation times, nasoalveolar molding, or nutrition plaque usage was documented for the cleft lip palate group. Pearson χ2 or Fisher exact test was used for the evaluation of the qualitative variables and independent samples t test or Mann Whitney U test for quantitative variables. P < .05 was accepted as statistically significant. Results: The mean ages were 7.52 ± 3.91 and 7.50 ± 3.89 years for cleft lip palate and control groups, respectively. No significant differences were observed between the groups for age, gender, or BMI. Breast-feeding duration was significantly higher, and bottle-feeding duration was lower in the control group ( P < .05). Mean PSQ score was significantly higher in cleft lip palate group (0.18 ± 0.12) than in control group (0.13 ± 0.1, P < .001); and prevalence of increased OSA risk was significantly higher in patients with both cleft lip and palate ( P = .020). Conclusions: Positive OSA screening ratio of children with cleft lip and palate (12.2%) was significantly higher than the controls (4.5%).


Author(s):  
Francisco Vale ◽  
Inês Francisco ◽  
António Lucas ◽  
Ana Roseiro ◽  
Francisco Caramelo ◽  
...  

Background: Cleft lip and palate can affect the development of the maxilla, which may create a midfacial deficiency as well as an interference of the facial growth pattern and dentofacial esthetics. Objective: Estimate the chronological age of complete fusion of the spheno-occipital synchondrosis in cleft lip and/or palate patient&acute;s and a control group, using cone beam computed tomography images. Methods: In this retrospective study, 125 patients were enrolled (cleft lip and/or palate group (n=91); control group (n=34)). Age comparison was made with Chi-square test and a Kaplan-Meyer analysis determined the median time to reach complete fusion of the spheno-occipital synchondrosis (p&amp;lt;0.05). Results: The experimental group showed statistically significant differences in the median time for complete ossification between males and females (p=0.019). No statistically significant differences were found in the control group between males and females (p=0.104). The median time for complete ossification of the spheno-occipital synchondrosis was, for males, 15.0 years in both groups; for females, it was 14.0 years in the experimental group and 13.0 years in the control group. Conclusions: The present study showed no differences in the ossification of the spheno-occipital synchondrosis between individuals with and without cleft lip and/or palate.


Sign in / Sign up

Export Citation Format

Share Document