Etiological aspects on craniofacial morphology in twins with cleft lip and palate

The craniofacial morphology of 39 Finnish twin pairs concordant or discordant for cleft of the lip (CL), unilateral cleft lip and palate (UCLP), or cleft palate only (CP) was studied by means of lateral cephalometric radiographs. The intrapair differences between various cleft and twin subgroups were compared by means of univariate analysis; multivariable analysis of cleft discordant pairs and the variance components were estimated with the TWINAN program. Larger values for intrapair differences were found, especially in linear measurements in older twin pairs. Heritability estimates for the cranial base measurements and, to a lesser extent, for the mandibular measurements were high. Comparisons on the basis of cleft type revealed more differences between twin pairs when clefting was more severe. Concordant and discordant CP twin pairs showed similarity in their intrapair craniofacial morphology, indicating that surgery seemed to have no major effect on their craniofacial morphology. A similar comparison in discordant UCLP showed that, in addition to clefting itself, external factors, i.e., the repaired cleft's direct effects on craniofacial morphology, have a strong influence on craniofacial morphology, especially in the maxillas of the UCLP twins. The craniofacial morphology in these Finnish twins supports the hypothesis of different genetic behavior for cleft lip and cleft lip and palate (CL(P)) and CP in Finland.     

Bite force of children with repaired unilateral and bilateral cleft lip and palate

ObjectiveTo assess the bite force (BF) of children with repaired cleft lip and palate (CLP).DesignChildren aged 6–12 years, with and without CLP, were divided into the following 5 groups: (1) control group (CON): 34 children without CLP (17 female, 17 male, mean age 8.2 ± 1.4); (2) cleft lip group (CL): 31 children with cleft lip involving the pre-maxilla (15 female, 16 male, mean age 9.7± 1.3); (3) unilateral CLP group (UCLP): 36 children with complete unilateral CLP (11 female, 25 male, mean age 9.4± 1.6); (4) bilateral CLP group (BCLP): 32 children with complete bilateral CLP (11 female, 21 male, mean age 9.5± 1.7); and 5) cleft palate group (CP): 17 children with complete cleft palate (9 female, 8 male, mean age 9.4± 1.6). Briefly, in this clinical trial, BF was assessed before alveolar bone grafting with a gnathodynamometer (IDDK, Kratos, Cotia, SP, Brazil). For CON, BCLP, CL and CP groups, BF was obtained in the anterior and posterior region of the maxilla. For the UCLP group, BF was assessed in the anterior and posterior regions of both segments. Differences among groups were evaluated by ANOVA test, and Tukey’s test was used to assess any correlations among variables (P < 0.05).ResultsUnexpectedly, no differences of BF were observed among CON and any of the cleft groups. However, a stronger BF was observed in the CL group when compared to the UCLP and BCLP groups. Next, no differences were observed between the cleft side and the noncleft side in the UCLP group. Lastly, in all groups, BFs from the anterior region of the maxilla were less when compared to the posterior regions.ConclusionThe BF of children with CLP is no different from children without CLP.     

The influence of the extend of isolated palatal cleft on craniofacial morphology

PurposeThe aim of this study was to determine what influence that extent of cleft may have on craniofacial morphology in children with a cleft palate by retrospectively comparing craniofacial morphologies in age-matched prepubertal children.Materials and methodsUsing a retrospective study design, we compared the craniofacial morphology cephalometrically, of 14 Japanese girls at age 9 years with a cleft soft palate (Group_CSP), with 13 age-matched Japanese girls with cleft soft and hard palate, not extending as far as the incisive foramen (Group_CPNIF), and 12 age-matched Japanese girls with cleft soft and hard palate, extending as far as the incisive foramen (Group_CPIF), living in the same region (Hokkaido, Japan). None of them had received dentofacial orthopaedic treatment. P < .05 was considered statistically significant.ResultsIn Group_CPNIF, the maxilla was significantly short (P < .05), the anterior parts of the maxilla being retruded (P < .05), compared with Group_CSP and, compared with Group_CPNIF, in Group_CPIF, anterior part of the maxilla was positioned posteriorly (P < .05), the maxillary body was significantly smaller (P < .01).ConclusionsThis study suggests that in prepubertal children, as the congenital defect in the tissue of the palate extended, the shortness in the anteroposterior maxillary length, accompanying anterior part of the maxilla in posterior position, was more marked.     

Is missing maxillary lateral incisor in complete cleft lip and palate a product of genetics or local environment

Objective:To test the null hypothesis: Subjects with isolated complete unilateral cleft lip and palate (UCLP) show no differences in overall frequency of tooth agenesis (hypodontia), comparing a subsample with cleft-side maxillary lateral incisor (MxI2) agenesis to a subsample without cleft-side MxI2 agenesis. Findings could clarify the origins of cleft-side MxI2 agenesis.Materials and Methods:Tooth agenesis was identified from dental radiographs of 141 subjects with UCLP. The UCLP cohort was segregated into four categories according to the status and location of MxI2 in the region of the unilateral cleft: group M: subjects with one tooth, located on the mesial side of the alveolar cleft; group D: subjects with one tooth, located on the distal side of the alveolar cleft; group MD: subjects with two teeth present, one mesial and one distal to the cleft; and group ABS: subjects with lateral incisor absent (agenesis) in the cleft area.Results:The null hypothesis was rejected. Among UCLP subjects, there was a twofold increase (P < .0008) in overall frequency of tooth agenesis outside the cleft region in a subsample with cleft-side MxI2 agenesis (ABS), compared to a subsample presenting with no agenesis of the cleft-side MxI2 (M+D+MD).Conclusions:Cleft-side MxI2 agenesis in CLP subjects appears to be largely a genetically controlled anomaly associated with cleft development, rather than a collateral environmental consequence of the adjacent cleft defect, since increased hypodontia involving multiple missing teeth observed remote from a cleft clearly has a significant genetic basis.     

Cephalometric analysis of craniofacial morphology and growth in unrepaired isolated cleft palate patients

ObjectiveThe aim of this study is to analyze the craniofacial morphology in patients with unrepaired isolated cleft palate (UICP) at childhood, adolescence and adulthood, in order to assess the influence of nonsurgical factors on the craniofacial growth in these patients.Material and methodsLateral and posteroanterior cephalograms of 106 non-syndromic UICP patients and 102 normal matched controls were obtained and analyzed. Patients and controls were divided into three subgroups: children (5–7 years), adolescents (12–14 years), and adults (>18 years).ResultsUICP patients in childhood showed a shortened cranial basal length; reduced bony nasopharyngeal height; short maxillary depth and height with a posterior positioned maxilla and an increased width of the nasal cavity, maxilla and orbit; and a shortened mandibular length and height. UICP patients in adulthood showed a normal nasopharyngeal and mandibular morphology. However, the patients in this subgroup still showed a shortened cranial basal length, and short maxillary depth and anterior height with increased width of the nasal cavity, maxilla and orbit.ConclusionsCraniofacial morphology and growth in patients with UICP were significantly affected by nonsurgical factors. Growth of the cranial base and upper face were absolutely reduced, while growth of the bony nasopharynx and mandible were only postponed.     

Association between BMP4 gene polymorphisms and cleft lip with or without cleft palate in a population from South China

ObjectivePrevious studies have suggested an association between several polymorphisms of the BMP4 gene and susceptibility to non-syndromic cleft lip with or without cleft palate (NSCL/P) in various populations. However, this association may vary according to ethnic group and the form of NSCL/P. This study analyzed the association between the BMP4 gene polymorphisms rs762642, rs17563, and rs10130587 with the risk of cleft lip only (CLO), cleft palate only (CPO), and cleft lip with palate (CLP) in a population from South China.MethodsThis case-control study included 165 patients with NSCL/P (53 patients with CPO, 52 with CLO, and 60 with CLP) and 52 healthy volunteers. Peripheral blood samples were collected from all subjects to genotype the rs762642, rs17563, and rs10130587 polymorphisms by direct sequencing. Genotype and allelic frequencies of these polymorphisms were compared between healthy volunteers and patients with various forms of NSCL/P.ResultsThe genotype and allelic frequencies of rs762642 differed significantly between subgroups (CPO and CLP) and normal controls, whereas a significant difference was observed only in the CLO subgroup for the rs17563 polymorphism and in the CLO and CLP groups for the rs10130587 polymorphism. In addition, we identified a novel association of a BMP4 gene polymorphism, which was in linkage disequilibrium with the rs10130587 polymorphism, with CLO and CLP.ConclusionThe BMP4 gene polymorphisms rs762642, rs17563, and rs10130587 exhibit different associations with different forms of NSCL/P, suggesting that different forms of NSCL/P may have different etiologies.     

Three-dimensional Evaluation of Mandibular Volume in Patients with Cleft Lip and Palate During the Deciduous Dentition Period

ObjectivesTo examine the relationship between mandibular volume and craniofacial morphology in patients with cleft lip and palate using cone beam computed tomography (CBCT) and to compare these findings with control (noncleft) patients undergoing CBCT for other purposes during the deciduous dentition period.Materials and MethodsEighty-four patients were categorized into the unilateral cleft lip and alveolus (UCLA) group (n = 25; mean age, 4.60 ± 0.40 years), unilateral cleft lip and palate (UCLP) group (n = 23; mean age, 4.52 ± 0.39 years), bilateral cleft lip and palate (BCLP) group (n = 22; mean age, 4.54 ± 0.37 years), and control group without cleft (n = 14; mean age, 5.19 ± 0.52 years). Mandibular volume and craniofacial cephalometric measurements were obtained using CBCT. All measurements were assessed by analysis of covariance (ANCOVA) using Bonferroni post hoc pairwise comparison tests.ResultsANCOVA revealed no statistically significant differences in mandibular volume among the groups. SNA° and ANB° were significantly larger in the UCLA and BCLP groups than in the control group. SN-MP° was smallest in the UCLA group. Co-A in the UCLP group was shorter than in the UCLA and BCLP groups. Go-Gn was shortest in the UCLP and BCLP groups compared with the control group.ConclusionsThree-dimensional evaluation of craniofacial morphology using CBCT can provide valuable information on malocclusion and other dentoskeletal problems among patients with CLP.     

The morphology of sella turcica in cleft and non-cleft individuals

Aims and ObjectivesThe aim of the study was to analyze the morphology and expedient the linear dimensions of Sella Turcica among cleft and non-cleft Indian individuals, and then to determine whether differences exist between different study groups.Materials and methodsThe lateral cephalogram of 300 patients (150 cleft and 150 non-cleft), aged 18 to 30 years who reported for various treatments of malocclusions were studied.ResultThe normal morphology of the sella turcica were seen in 85 of the 150 non-cleft individuals which was highest (56.66%) in the non-cleft group, however in the cleft group it was seen in only 16 of the 150 individuals (10.6%). Sella turcica bridge were seen in 10% of the non-cleft subjects, whereas in the cleft group it was seen in 38% of the individuals. A significant difference was seen in the linear measurements of the sella turcica of cleft and no-cleft individuals.ConclusionThe normal morphology of the sella turcica was seen in the majority of the non-cleft individuals. The cleft individuals showed an increased incidence of sella turcica bridging with reduced linear measurements of the sella as compared to the non-cleft individuals.     

Influences of palatoplasty by the push-back procedure on craniofacial morphology and growth

PurposeFor patients with a cleft palate, the push-back procedure which accompanies posterior shifting of palatal flap is thought to be most effective way of. achieving adequate velopharyngeal function. In this study, we aimed to evaluate the influences of the push-back procedure on the craniofacial morphology and its growth.Material and methodsUsing cephalometry we compared the craniofacial morphology and growth of three groups of Japanese children, living in the same region (Hokkaido, Japan).1) 28 children (13 girls and 15 boys) with operated submucous cleft palates at the ages of 9 and 14 respectively.2) 12 age-matched children (7 girls and 5 boys) with unoperated submucous cleft palates.3) 60 age-matched non-cleft children (30 girls and 30 boys) with normal occlusion.None of them received dentofacial orthopaedic treatment.ResultsWhile the patients who had been operated on had significant differences in posterior upper facial height and inclination of the palatal plane when compared with non-cleft children or unoperated cleft children, they showed no statistically significant difference in anteroposterior positioning of anterior part of the maxilla, compared with the unoperated.ConclusionsThe influences of palatoplasty by the push-back procedure with posterior positioning of the palatal flaps on craniofacial morphology are additional to the cleft palate, and of minor concern.     

Interferon regulatory factor 6 variants affect nasolabial morphology in East Asian populations

ObjectiveThe interferon regulatory factor 6 gene (IRF6) is one of the most conspicuous genes among a large number of candidate risk genes for non-syndromic cleft lip with or without cleft palate, which is considered to be a multifactorial defect. Variants of IRF6 are also suggested to affect normal craniofacial variations, especially in the area of the nose and the upper lip. In the present study, we used lateral cephalograms to establish the relationship between IRF6 and sagittal nasolabial morphology in healthy East Asian subjects.DesignGenomic DNA was extracted from 215 Japanese and 226 Korean individuals, and genotyped for five IRF6 single nucleotide polymorphisms (SNPs): rs17389541, rs642961, rs2013162, rs2235371, and rs7802. These SNPs were tested by multiple regression analyses for their association with craniofacial measurements obtained from lateral cephalometrics.ResultsWe detected a significant association between the derived variants, rs2013162 and rs2235371 and the distances between a facial bone plane indicated by distance from Nasion and Point A (NA plane) to soft tissue landmarks; the Subalare (NA-Sbal) and the Subnasale (NA-Sn) in the sagittal plane.ConclusionOur results indicate that IRF6 variants play an important role in the normal range of variation in nasolabial soft-tissue morphology.     

Crown-root ratio of permanent teeth in cleft lip and palate patients

Objectives:To determine root lengths of fully developed permanent teeth of cleft lip and palate (CLP) patients and to define their crown-root (C/R) ratios.Method:Crown height and root length of permanent teeth were measured from panoramic radiographs of 44 CLP patients and 37 controls. A total of 1397 teeth were measured, and C/R ratios were calculated.Results:Higher C/R ratios were found in CLP patients; this was statistically significant for both maxillary and mandibular incisors and canines. Bilateral CLP subjects showed higher C/R ratios in general than unilateral CLP subjects. Roots of maxillary incisors, canines, and some other teeth were significantly shorter in CLP patients than in controls.Conclusions:CLP patients should be considered to have unfavorable C/R ratios, which could be the result of short root lengths for some teeth.     

Detection of candidate chromosome for cleft lip with palate in A/WySn mice

Non-syndromic cleft lip with palate (CLP) represents one of the many craniofacial malformations identified in humans. The etiology underlying CLP are complex and highly variable. A/WySn mice serve as an intriguing model for human CLP, as they develop this dysmorphology with a variable expression pattern, incomplete penetrance and frequently demonstrate unilateral expression on a homogeneous genetic background. The developmental basis for these variations in expression is unknown. In the present study, the authors performed interval mapping and linkage analysis on the first backcross segregates of a cross between A/WySn and C57BL/6J (N₂ generation) mice affected with CLP using 99 informative Mit markers that have been previously determined. To ensure for the CLP trait, we observed mouse embryos on embryonic day 18 (E18), as palatal fusion does not occur prior to E16 in mice. 39 CLP affected individuals were identified in the 3,018 living N₂ backcross embryos. Two highly significant linkage regions on chromosome 11 (flanked by D11Mit245 and D11Mit203 markers) and chromosome 13 (flanked by D13Mit179 and D13Mit293 markers), respectively were obtained (χ², P < 0.001). These findings suggested that candidate genes for CLP in the A/WySn mouse strain are located on chromosomes 11 and 13.     

Dental age and asymmetry in the formation of mandibular teeth in twins concordant or discordant for oral clefts

The aims of this investigation were: 1) to study the effects of zygosity and the type of cleft on dental age in pairs of twins concordant or discordant for oral clefts, 2) to compare dental age in the twins with that in a population of normal Finnish children, and 3) to study asymmetry in the formation of mandibular teeth with regard to zygosity and the type of cleft. Twenty-two pairs of twins (8 mono- and 14 dizygotic) and one set of monozygotic triplets concordant or discordant for cleft lip (CL), cleft palate (CP), or both (CLP) were investigated. Four of eight mono- and 12 of 14 dizygotic pairs were discordant for clefts. An orthopantomogram of both twins was taken on the same day. In 7 of the 8 monozygotic (88%) and in 4 of the 14 dizygotic (29%) pairs, the dental age was the same in both twins. Of the 12 pairs discordant for clefts, the dental age of the twin with cleft was delayed in 5, advanced in 3, and the same in 4 compared with that of the twin without a cleft. The means of chronologic age and dental age were counted separately for the cleft subgroups and the non-cleft (NONC) group. The dental age was advanced in the CL twins and in the NONC twins, and was the same as chronologic age in the CP twins, but it was delayed in the CLP twins. Asymmetric formation of the 14 mandibular teeth (mostly the second premolars) was encountered in 3 of 8 CLP, in 3 of 18 CP, in 1 of 16 NONC, and in none of 5 CL children. The great similarity in tooth formation among the monozygotic twins indicates strong genetic control of dental maturation in twins concordant and also discordant for cleft.     

Dental age and asymmetry in the formation of mandibular teeth in twins concordant or discordant for oral clefts

Abstract – The aims of this investigation were: 1) to study the effects of zygosity and the type of cleft on dental age in pairs of twins concordant or discordant for oral clefts, 2) to compare dental age in the twins with that in a population of normal Finnish children, and 3) to study asymmetry in the formation of mandibular teeth with regard to zygosity and the type of cleft. Twenty-two pairs of twins (8 mono- and 14 dizygotic) and one set of monozygotic triplets concordant or discordant for cleft lip (CL), cleft palate (CP), or both (CLP) were investigated. Four of eight mono- and 12 of 14 dizygotic pairs were discordant for clefts. An orthopantomogram of both twins was taken on the same day. In 7 of the 8 monozygotic (88%) and in 4 of the 14 dizygotic (29%) pairs, the dental age was the same in both twins. Of the 12 pairs discordant for clefts, the dental age of the twin with cleft was delayed in 5, advanced in 3, and the same in 4 compared with that of the twin without a cleft. The means of chronologic age and dental age were counted separately for the cleft subgroups and the non-cleft (NONC) group. The dental age was advanced in the CL twins and in the NONC twins, and was the same as chronologic age in the CP twins, but it was delayed in the CLP twins. Asymmetric formation of the 14 mandibular teeth (mostly the second premolars) was encountered in 3 of 8 CLP, in 3 of 18 CP, in 1 of 16 NONC, and in none of 5 CL children. The great similarity in tooth formation among the monozygotic twins indicates strong genetic control of dental maturation in twins concordant and also discordant for cleft.     

The prevalence of specific dental anomalies in a group of Saudi cleft lip and palate patients

Objective

The aims of this study were to investigate the prevalence and distribution of dental anomalies in a group of Saudi subjects with cleft lip and palate (CLP), to examine potential sex-based associations of these anomalies, and to compare dental anomalies in Saudi subjects with CLP with published data from other population groups.

Design

This retrospective study involved the examination of pre-treatment records obtained from three CLP centers in Riyadh, Saudi Arabia, in February and March 2010. The pre-treatment records of 184 subjects with cleft lip and palate were identified and included in this study. Pre-treatment maxillary occlusal radiographs of the cleft region, panoramic radiographs, and orthodontic study models of subjects with CLP were analyzed for dental anomalies.

Results

Orthopantomographs and occlusal radiographs may not be reliable for the accurate evaluation of root malformation anomalies. A total of 265 dental anomalies were observed in the 184 study subjects. Hypodontia was observed most commonly (66.8%), followed by microdontia (45.6%), intra-oral ectopic eruption (12.5%), supernumerary teeth (12.5%), intra-nasal ectopic eruption (3.2), and macrodontia (3.2%). No gender difference in the prevalence of these anomalies was observed.

Conclusions

Dental anomalies were common in Saudi subjects with CLP type. This will complicate the health care required for the CL/P subjects. This study was conducted to epidemiologically explore the prevalence of dental anomalies among Saudi Arabian subjects with CLP.     

Normal emotion regulation in adults with cleft lip and palate: An exploratory study

IntroductionCleft lip and palate (CLP) represent the most common congenital malformations of the midfacial region. Although these patients show differences in their facial appearance, we hypothesize that CLP-affected individuals do not show an alteration in their emotion regulation abilities compared to unaffected individuals. This is because of the strong biological basis of facial emotion and expression that is inherent and receives little influence from external factors.Material and methodsThe present study evaluated various aspects of emotion regulation in 25 adults with CLP and an equally sized control group of unaffected volunteers. The study was divided into three parts. First, we investigated emotion regulation strategies. Here, each participant was asked to complete the Emotion Regulation Questionnaire (ERQ) and Ambivalence over Emotional Expressiveness Questionnaire G 18 (AEQ-G18). Second, we examined the recognition of facially expressed basic emotions (FEEL test). Third, we evaluated the expression of an emotion induced by an odor sample.ResultsHabitual emotion regulation, measured by ERQ and AEQ-G18, was not different between CLP and controls subjects for all of the sub-scales. Recognition of facially expressed basic emotions was also the same for both groups. Facial emotion encoding did not differ for both groups.ConclusionsTo summarize, the findings suggest that individuals with an orofacial cleft show undisturbed emotion regulation and recognition. This may be explained by the strong biological basis of facial emotion recognition and regulation as well as by the healthy emotional resilience and social functioning of CLP patients.     

Cephalometric outcome of two types of palatoplasty in complete unilateral cleft lip and palate

In complete unilateral cleft lip and palate (CLP), a vomerplasty is assumed to improve midfacial growth because of the reduction in scarring in the growth-sensitive areas of the palate. Our aim, therefore, was to evaluate maxillofacial morphology after a modified Langenbeck technique or a vomerplasty in children with complete unilateral CLP who were operated on by a single surgeon. As part of a one-stage closure of complete unilateral CLP done during the first year of life, the technique for repair of the hard palate repair differed between the two groups. In the modified group (n = 37, mean age 11 years) a modified von Langenbeck technique was used that resulted in denudation of the bony surface on the non-cleft side only. In the vomerplasty group (n = 37, mean age 11 years) a vomerplasty was used to cover the palatal bone. Lateral cephalograms from both groups were compared using the Eurocleft protocol. Fourteen angular variables were measured and 2 ratios calculated. Skeletal morphology in the groups was comparable. Maxillary incisor inclination (ILs/NL angle) and interincisal angle (ILs/ILi) were better after vomerplasty (p = 0.001 and 0.04, respectively) but soft tissue facial convexity (gs-prn-pgs) was less good after vomerplasty (p = 0.009). However, there was no difference between the groups in the other variable that reflected facial convexity (gs-sn-pgs) (p = 0.22). Modification of the palatoplasty had a limited effect on skeletal morphology in preadolescent children, but it resulted in better inclination of the maxillary incisors.     

Presurgical orthopedics by drink plates does not significantly normalize deglutition in infants with cleft lip and palate

Objective:To test the null hypothesis of no significant difference between intraoral pressure characteristics in infants with cleft lip and palate (CLP) with or without presurgical orthopedic (PSO) plates (groups CLP and CLP-PSO), compared with noncleft infants.Materials and Methods:Intraoral atmospheric pressure assessments were performed on 17 subjects with preoperative CLP (m/f, 11/6; mean/SD, 4.76/0.92 months) and a matched control group (n = 24; m/f, 15/9; mean/SD, 4.88/0.9 months), for 200 seconds, simultaneously at the vestibulum (vestibular space [VS]) and at the palate (subpalatal space [SPS]), using a prepared pacifier connected to a digital manometer. Areas under the pressure curves (AUC), frequencies, durations, and magnitudes of swallowing peaks and pressure resting plateaus were compared between trial groups and locations (VS, SPS) using a two-factor analysis of variance for repeated measures, Kruskal-Wallis test, and Mann-Whitney U-test (α = .05).Results:The null hypothesis was rejected: Globally, there were statistically significant differences in intraoral pressure characteristics between groups CLP, CLP-PSO, and control (all P < .01), with significantly higher negative pressures (AUC) in the control subjects compared with those of CLP or CLP-PSO. There were significant effects by the location of pressure recordings (VS, SPS) and their interaction with all treatment groups. Differences between noncleft and CLP subjects were more pronounced in the VS than in the SPS. There was no significant effect by PSO.Conclusion:PSO does not improve deviated swallowing characteristics during suction in CLP infants.