Cleft Palate Group Research Articles

Tongue dorsum activity in children with velopharyngeal insufficiency vs. typically developing children.

To investigate whether children with velopharyngeal insufficiency (VPI) exhibit increased elevation and retraction of the tongue dorsum. Two quantitative metrics of tongue dorsum activity: Dorsum excursion Index (DEI) and Tongue Constraint Position Index (TCPI) were captured using mid-sagittal images of the tongue obtained from Ultrasound Tongue Imaging. Participants: Six children with velopharyngeal insufficiency (VPI), six children with palate (w/wo cleft lip) without velopharyngeal insufficiency (wo VPI) and ten typically developing children aged 6-15 repeated six different consonants in aCa and iCi contexts five times. A linear mixed-effect model was used to examine the response variables across three groups. Overall, DEI was not significantly higher in the VPI group than in the other two groups. Also, TCPI was not significantly lower in the cleft palate group (VPI and wo VPI). However, significant differences were detected between certain phonetic contexts in the VPI group. In addition, a significant interaction between group and consonant was found in the context of /i/. These findings suggest that the presence of VPI may not lead to a uniform increase in tongue dorsum elevation or retracted position across all speech sounds. Rather, the articulatory behaviours of children with VPI may be influenced by the specific phonetic context and individual variability.

Risk of self-harm ideation in mothers of children with orofacial cleft defects: the Japan environment and children's study.

Cleft lip and/or palate (CL/P), the most prevalent congenital anomaly, has been associated with higher rates of child maltreatment. In particular, the presence of cleft lip has more of an impact on external appearance and may increase the risks of negative health outcomes such as parental postpartum depression; however, this concept remains controversial. Item #10 of the Edinburgh Postpartum Depression Scale is the assessment of parental self-harm ideation, and its presence in postpartum mothers merits risk assessments as an emergent issue that may affect the health of both mothers and infants. This study focused on the impact of CL/P on maternal self-harm ideation. Of 100,300 live births from a nationwide birth cohort in Japan, 238 mothers of infants with CL/P [186 children born with cleft lip (CL ± P) and 52 born with isolated cleft palate (CP)] were included in the analyses. The prospective association of children with CL/P and maternal self-harm ideation, which were acquired using item #10 in the Edinburgh Postpartum Depression Scale at 1 and 6 months postpartum, was examined using binomial logistic regression analyses after multiple imputations and with adjustments for several maternal (age at delivery, smoking habit, and alcohol intake) and child-related (sex and prevalence of other congenital diseases) variables. The prevalence of self-harm ideation in 238 mothers of infants with CL/P at 1 and 6 months were 14.7% (35/238) and 18.8% (45/238) [8.2% (8,185/100,062) and 12.9% (12,875/100,062) in the control group], respectively. The odds ratio (95% confidence interval) for maternal self-harm ideation increased with CL/P prevalence [1.80 (1.22-2.65) and 1.47 (0.98-2.18)] at 1 and 6 months of age, respectively. After stratified by the prevalence of cleft lip, we found significant differences in the CL ± P group but not in the CP group. Furthermore, persistent self-harming ideation was associated with a higher risk in the CL ± P group [2.36 (1.43-3.89)]. CL/P, particularly cleft lip, which is more noticeable externally, was associated with an increased prevalence of maternal self-harm ideation. The findings in this study indicate some potential benefits of increasing support for mothers who have infants with CL/P.

Evaluation of Weight, Height, Body Mass Index, and Nutritional Status of Children With and Without Orofacial Cleft in Nigeria.

To compare the weight, height, BMI and nutritional status of patients with and without cleft lip and/or cleft palate (CLP). Cross-sectional study. Lagos University Teaching Hospital. Patients with CLP and a control group of participants without CLP aged between 1 month and 6 years. All patients in the CLP group had not received surgical or nutritional intervention. Weight, height, BMI, their respective percentiles, and nutritional status according to the WHO 2006 growth curves of participants. Patients with CLP (n = 60, 21 males, 39 females, mean age: 19.1 months) had significantly lower percentile weight and height compared to those of controls (n = 60, 26 females, mean age, 23.6 months) in univariate analyses (all p < 0.01). Multivariate linear regression revealed significant interactions with age group for weight. In addition, proportions of underweight and short stature were significantly higher in the CLP group compared to the control group (all p < 0.05), and these significant differences were dependent on the age group with between-group significant differences only in age groups less than 25 months. Overall, patients with CLP had significantly lower weight, height, BMI and nutritional status than their unaffected peers, and these differences were dependent on age group. Significantly lower nutritional status was seen in patients with CLP up to 24 months of age, which highlights the need for early nutritional intervention in the management of CLP.

Evaluation of nasolacrimal canal morphology in different facial skeletal relationships

BackgroundAbnormal morphological variations of nasolacrimal canal (NLC) and its lack of understanding contributes to acquired injuries during craniomaxillofacial surgical procedures which leads untoward postoperative complications like nasolacrimal obstruction (NLO) and epiphora. PurposeThe purpose of this study was to determine dimensional and volumetric morphological variations of nasolacrimal canal in various facial skeletal relationships which aid in performing a precise and safe surgery. Materials and methodsThis retrospective cohort study involved dimensional and volumetric analysis of nasolacrimal canal procured from computed tomography scans of 47 individuals grouped as ClassI, Class II and Class III, and unilateral cleft lip and palate (UCLP) groups. The outcome variables included length of NLC, volume of NLC, distance between the inferior orifice of the NLC to nasal floor, distance between inferior orifice of NLC to canine apex and distance between inferior orifice of NLC to central incisor apex. The objectives were to analyse morphological variation of NLC in different facial skeletal relationships and to evaluate the variation with change in facial sides and its relationship with surrounding structures. ResultsVolume of the NLC was found significant in Class I and UCLP population (p < 0.05) with the greatest volume in the UCLP group. The mean linear and volumetric measurements between the right and left sides were found insignificant among all groups. Inferior orifice of NLC from canine apex were farthest in Class III and nearest in the UCLP group (p < 0.05). There was no significant association between outcome variables and skeletal base configuration. ConclusionNLC demonstrates dimensional and anthropometric variations between different skeletal relationships and this study is inevitable in understanding the probability of NLC injury during maxillofacial surgeries.

Analysis Study for Cleft Lip And / Or Palate Patients and Steps of Management in Al-Wasity Hospital

Cleft is defined as defect in the fusion of facial tissues alone or with palatal processes during embryonic life causes an opening in face or roof of mouth in baby which considers as most common anomalies visit our hospital. To analyses most important problems which may consider as one of the cause of cleft lip and palate patients with steps in management of this important anomaly. The sample involves 500 patient distributed between cleft lips only, cleft palate group and cleft lip and palate. The parent of patient takes important field in our study since they are who answer the questions, the study take five years from 2010 to 2015, patients came to our hospital with age extend from few hour to 28 years old .the problem is very important and this first study in our hospital . Of this st udy analyzed by chi-square test, the results were founded cleft li p group was found to be (15.6%), cleft palate group (33.6%) and cleft lip and palate group were (50.8%). We take the order of patient in family found 28% of sample first in order (highest percentage).Most patient fathers above 30 years (65%), 8.6%of them with systemic disease (40%) were smokers. Most age group of mother were younger between 16-30 years old (65.4%), previous history of cleft found in 33% of sample and (45.6 %) of mother had a history of psychological problem. Management of patient include long process therapy as early age of patient when reach hospital to age above 20 years old which include plastic surgery , orthodontic treatment and maxillofacial surgery.

Speech Outcomes and Velopharyngeal Function in Children Undergoing Submucous Cleft Palate Repair.

Describe and compare the results of speech and velopharyngeal function in children with classic and occult submucous cleft palate undergoing interdisciplinary treatment at the Gantz Foundation. The clinical history of all patients born between 2012 and 2017 with a diagnosis of classic or occult submucous cleft palate was retrospectively reviewed. Preoperative and postoperative medical, surgical, and speech and language history were collected. Twenty-eight cases diagnosed at the age of 44.8±23.9 months were included. Of these, 71.4% presented classic submucous cleft, and 28.6% occult. Before primary surgery, 7.1% had a diagnosis of the syndrome, and 21.4% were under study. A total of 39.3% had hearing difficulties and 21.4% used tympanic ventilation tubes. A total of 60.7% had language problems, 39.3% had compensatory articulation, 17.9% had absent hypernasality, and 21.4% had absent nasal emission. The team indicated primary palate surgery in 71.4%, of which 85% performed the surgery at the mean age of 61.7±24.7 months. The surgical technique was Furlow in 88.2% of the cases and intravelar veloplasty in the remaining 11.8%. Then, 3 cases underwent velopharyngeal insufficiency surgery; 2 of them eliminated hypernasality and reduced nasal emission. The age of diagnosis ( P =0.021) and the performance of velopharyngeal insufficiency surgery ( P =0029) of the occult submucous cleft palate group was significatively later than the classic cleft palate group. Language, hearing, compensatory articulation, hypernasality, and nasal emission problems were recorded. A high percentage required primary surgery. Of these, a low proportion also required a velopharyngeal insufficiency surgery, which improved the velopharyngeal function of the children but did not completely adapt it. In this regard, early diagnosis is essential, as well as an analysis of each center primary closure protocol.

The burden of psychiatric disorders associated with orofacial cleft pathology among children in Ontario, Canada

Individuals with orofacial cleft (OFC) may be at a higher risk of developing psychiatric disorders (PD) than the general population. We determined the risk of psychiatric diagnoses in children with OFC in Canada. This population-based retrospective cohort study used health administrative data from the province of Ontario, Canada. Children with OFC who were born between April 1, 1994, and March 31, 2017, in Ontario were matched to five non-OFC children based on sex, date of birth, and mother's age. We determined the rate of events and time-to-event for first diagnosis of PD in children aged ≥3 years (y), and for intellectual developmental delay (IDD) from birth. Risk factors for PD and IDD were assessed using 1-way ANOVA for means, Kruskal-Wallis for medians, and the χ2 test for categorical variables. There were 3051 children with OFC (matched to 15,255 controls), of whom 2515 patients with OFC (12,575 controls) had a complete follow-up to the third birthday. Children with OFC were more likely to have PD than controls (54.90 vs. 43.28 per 1000 patient-years, P<.001), with a mean age to first diagnosis of 8.6±4.2y. The cleft palate group had the highest risk (HR 1.33, 95% CI 1.18-1.49). Children with OFC also had a higher risk of IDD than non-OFC children (27.78 vs. 3.46 per 1000 patient-years, p<.001). Children born with OFC in Ontario had a higher risk of psychiatric diagnosis and IDD compared to controls. Further research is also required to better understand the predictors of variation in risk, including geographic location and the presence of congenital abnormalities, and identify potential areas for intervention. Level II.

Stem Cell-Based Tissue Engineering for Cleft Defects: Systematic Review and Meta-Analysis.

This study aimed to analyze the efficacy of stem cell-based tissue engineering for the treatment of alveolar cleft (AC) and cleft palate (CP) defects in animal models. Systematic review and meta-analysis. Preclinical studies on alveolar cleft repair in maxillofacial practice. Electronic search was performed using PubMed, Embase, and Cochrane databases. Pre-clinical studies, where stem cell-based tissue engineering was used in the reconstruction of AC and CP in animal models were included. Quality of the selected articles was evaluated using SYRCLE (SYstematic Review Centre for Laboratory animal Experimentation). Review of alveolar cleft bone augmentation interventions in preclinical models. Outcome parameters registered were new bone formation (NBF) and/or bone mineral density (BMD). Thirteen large and twelve small animal studies on AC (21) and CP (4) reconstructions were included. Studies had an unclear-to-high risk of bias. Bone marrow mesenchymal stem cells were the most widely used cell source. Meta-analyses for AC indicated non-significant benefits in favor of: (1) scaffold + cells over scaffold-only (NBF P = .13); and (2) scaffold + cells over empty control (NBF P = .66; BMD P = .31). Interestingly, dog studies using regenerative grafts showed similar to superior bone formation compared to autografts. Meta analysis for the CP group was not possible. AC and CP reconstructions are enhanced by addition of osteogenic cells to biomaterials. Directions and estimates of treatment effect are useful to predict therapeutic efficacy and guide future clinical trials of bone tissue engineering.

Cleft Lip and Palate in Adolescence Identifying Variables Relating to Psychosocial Concerns

Background: It is postulated that individuals with cleft lip and palate may be at risk to experience psychosocial problem based upon their congenital malformation. Since cleft is one of the more common congenital malformations it is of importance to address this postulation. Purpose: To investigate if adolescents with cleft lip and palate have an altered self- concept, and to assess their degree of introversion. Materials and Methods: The cleft lip and/or palate group consisted of 55 adolescents (17 to 20 years) while the control group consisted of 31 adolescents (16 to 19 years). Results: In this study, TSCS indicated the individuals with cleft did not experience low self-concept in comparison with the control group, in actuality the overall score indicated a significant higher self-esteem 356.60 +/-30.22 (t(80) = 2.41; p &lt; .05) as well in sub-scale; identity, behaviour and family self. When comparing the individuals with cleft lip and palate, cleft lip or cleft palate, they did not differ from one another (F(2, 47) = 1,79; p &gt; .05). Conclusion: Adolescents with cleft seem to have a normal to high self-concept without an accentuated degree of introversion and also Academic achievement of adolescents with cleft is significantly reduced, particularly in the group with cleft palate.

Transcriptome heterogeneity of congenital cleft palate model in congener New Zealand rabbits induced by dexamethasone.

This work aimed to investigate the transcriptome heterogeneity of dexamethasone-induced congenital cleft palate in homozygous New Zealand rabbits and determine the molecular mechanism underlying the occurrence of congenital cleft palate. Dexamethasone (1.0 mg per day) was administered intramuscularly to 20 New Zealand pregnant rabbits from day 14 to day 17 of gestation, and the palatal phenotype of all offspring of each pregnant rabbit was observed. Eight embryos with a 4∶4 ratio of cleft palate to non-cleft palate were selected and divided into the cleft palate group (CP) and non-cleft palate group (NCP). Their palatal tissues were collected for RNA sequencing. A total of 225 differentially expressed genes (Q<0.05) were found in the CP group compared with the NCP group, of which 120 genes were upregulated and 105 genes were downregulated. The GO and KEGG enrichment analyses of these differentially expressed genes were carried out. The results showed significant enrichment in GO classification, which included heterotrimeric G protein complex, extracellular matrix, transcription factor complex, and basement membrane. Meanwhile, GABA ergic synapse, morphine addiction, retrograde endocannabinoid signaling, glutamate synapse, serotonergic synapse, regulation of actin cytoskeleton, and the Apelin signaling pathway were significantly enriched in the KEGG pathway. Compared with the NCP group, the gene expression levels of ARHGEF6 (P<0.05) and ABI2 (P<0.001) decreased in the CP group, and APC increased (P<0.001); these results were confirmed by real-time polymerase chain reaction. Abnormal expression levels of the ARHGEF6, APC, and ABI2 genes involved in the regulation of the actin cytoskeleton in the palatal synapse may be associated with the dexamethasone-induced congenital cleft palate in New Zealand rabbits.

Hearing-related problems in children with cleft palate: A single-center cross-sectional study in the sub-Himalayan population

Purpose: Cleft palate is known to cause recurrent otitis media with hearing loss. Various studies have stated the incidence of middle ear disease in patients with cleft palate is around 90%. The anomalous position of the Eustachian tubes in patients with cleft palate leads to otitis media with effusion. If left uncorrected this leads to complications such as cholesteatoma, retraction pockets, and atelectasis leading to permanent hearing loss. In this study, we evaluated the children presenting to our institute with cleft palate for hearing-related issues. Materials and Methods: The study was conducted in our institute from January 2017 to September 2020. It was a cross-sectional study, where 45 children with cleft palate were compared with 36 children with cleft lip who were considered the control group. Hearing of all children was assessed using tympanometry, otoscopy, and brainstem evoked response audiometry (BERA). Results: About 93.3% of children in the cleft palate group had an abnormal tympanic membrane on otoscopy, whereas in the control group only 11.1% of children had an abnormal tympanic membrane on otoscopy. About 97.8% of children in the cleft palate group had a hearing threshold greater than 25 decibels, whereas only 13.9% of children in the control group had a hearing threshold of above 25 decibels. More children in the cleft palate group had an abnormal tympanogram (42.2% had a type B tympanogram and 46.7% had a type C tympanogram) compared to the control group (5.6% had a type B tympanogram and 2.8% had a type C tympanogram). Conclusion: Our study adds to the evidence that there is a high incidence of hearing impairment in children with cleft palate. Hence, we advocate that early identification by screening measures such as otoscopy, tympanometry, auditory brainstem response, and pure tone audiometry during the first visit itself in these children so that early treatment can be initiated.

Cleft Lip and Palate in Adolescence Identifying Variables Relating to Psychosocial Concerns

Background-It is postulated that individuals with cleft lip and palate may be at risk to experiencepsychosocial problem based upon their congenital malformation. Since cleft is one of the more common congenital malformations it is of importance to address this postulation. Purpose: To investigate if adolescents with cleft lip and palate have an altered self-concept, and to assess their degree of introversion. Materials and Methods: The cleft lip and/or palate group consisted of 55 adolescents (17 to 20 years) while the control group consisted of 31 adolescents (16 to 19 years). And Results: In this study, TSCS indicated the individuals with cleft did not experience low self- concept in comparison with the control group, in actuality the overall score indicated a significant higher self-esteem 356.60 +/- 30.22 (t (80) = 2.41; p&lt;.05) as well in sub-scale; identity,behaviour and family self. When comparing the individuals with cleft lip and palate, cleft lip or cleft palate, they did not differ from one another (F (2,47) =1,79; p&gt;.05). Conclusion: Adolescents with cleft seem to have a normal to high self-concept without an accentuated degree of introversion and also Academic achievement of adolescents with cleft is significantly reduced,particularly in the groupwith cleft palate.

Transverse differences between cleft lip and palate and non-cleft palate with skeletal Class III malocclusion using buccolingual inclination: a cone-beam computed tomography retrospective study

BackgroundThe purpose of this study was to evaluate the differences between buccolingual inclination (BI) of maxillary posterior teeth in patients with cleft lip and palate (CLP) and non-cleft palate with skeletal Class III malocclusion. We propose a method of maxillary expansion which is more suitable for patients with CLP.MethodsFor this retrospective study, 40 patients with CLP and 21 patients with skeletal Class III malocclusion were selected. The CLP group was divided into the unilateral cleft lip and palate (UCLP) and bilateral cleft lip and palate (BCLP) groups. The BI of the maxillary first premolar (BI4), maxillary second premolar (BI5) and first molar (BI6) were measured using cone-beam computed tomography, and the differences between them were compared and analyzed by Student’s t-test.ResultsThere were significant differences between cleft side BI4 and non-cleft side BI4 in the UCLP group, BI5 in the BCLP group, BI4 and BI5 in all CLP groups and the skeletal Class III malocclusion group. BI6 was similar across all three groups.ConclusionsThe premolars of patients with CLP do not exhibit the same regularity as those with Class III malocclusion; this may be related to surgical scarring of the cleft palate. Greater attention should be paid to the correction of BI in the maxillary expansion of patients with CLP.

Alterations in Facial Soft Tissue Thickness Post-Facemask Treatment in Noncleft Skeletal Class III and Bilateral Cleft Lip Palate Class III Patients.

The purpose of this retrospective study was to assess the alteration in the facial soft tissue thickness after rapid maxillary expansion with facemask treatment in bilateral cleft lip and palate (BCLP) Class III patients and noncleft Class III patients. Case records including lateral cephalograms of 30 patients (19 females, 11 males) treated using a rapid maxillary expansion with facemask treatment were analyzed. Group I (age: 11.4 ± 1.02 years) (10 females, 5 males) consisted of noncleft skeletal Class III patients, and group II (age: 10.8 ± 0.84 years) (9 females, 6 males) comprised skeletal Class III patients with bilateral cleft lip and palate. Fifteen hard tissue and 10 soft tissue measurements were made at the beginning and at the end of the treatment to evaluate the change with rapid maxillary expansion combined facemask treatment. The bilateral cleft lip and palate group displayed a statistically significant increase in the thickness of the subnasale, labrale superius, labrale inferius, labiomentale, and pogonion, whereas the thickness of the stomion was found to be significantly decreased. The noncleft group demonstrated a statistically significant decrease in the thickness of the stomion and gnathion. There was a statistically significant difference between the bilateral cleft lip and palate and noncleft groups in the facial soft tissue thickness measurements at labrale superius, gnathion, and subnasale points and in Y axis, U1-SN, U1-NA in the hard tissue measurements. The results of the study indicated that the rapid maxillary expansion with facemask treatment produced diverse alterations in the facial soft tissue thickness of bilateral cleft lip and palate patients and noncleft Class III patients.

Study intelligence quotient among sample of children suffering from cleft lip and palate &amp; hypospadias attending pediatric surgery clinic in Al-Hussien Hospital

Background: need for more reliable knowledge about speech development &amp; surgical techniques is critical in caring for children born with cleft lip &amp; palate. Aim and objectives: The main goal of this research was to assess the level of intelligence in children born with cleft lip &amp; palate and hypospadias and to find if there is correlation among cleft lip &amp; palate &amp; hypospadias malformations and IQ. Subjects &amp; methods: This cross-sectional research was conducted in pediatric surgery clinics at Al-Azhar University Hospitals. Research was showed on 52 children with cleft lip &amp; palate and hypospadias. All patients were divided into 2 groups: Cleft lip &amp; palate group (n=30) &amp; Hypospadias group (n=22). Results: regarding Full-Scale Intelligence Quotient of Wechsler Intelligence Scale of studied children. Full-Scale Intelligence in Cleft lip and palate group ranged from 72 to 104 with mean ± SD = 86.4 ± 7.56 while in Hypospadias group the Full-Scale Intelligence ranged from 66 to 99 with mean ± SD = 86.18 ± 8.02. Conclusion: The present study assessed the association between intelligence level and incidence of cleft lip &amp; palate &amp; hypospadias.

Somatosensory evoked magnetic fields induced by electrical palate stimulation in patients with unilateral cleft lip and palate after palatoplasty

Palatal sensation is important for articulation, feeding, and swallowing. However, palatal sensation in patients with cleft palate (CP) after palatoplasty has been investigated only inadequately because of the complexity and high costs of objective evaluation. This study compared the somatosensory evoked magnetic fields (SEFs) induced by electrical stimulation of the palates of patients with CP after palatoplasty and the palatal sensory thresholds (PSTs) of the stimulation with those of healthy (control) subjects. The CP group comprised 12 patients with unilateral cleft lip and palate (UCLP). The control group comprised 31 control subjects. No significant difference in intensity was found between them. Nevertheless, the PSTs in the UCLP group were significantly higher than those in the control group at all sites (p < 0.05). We infer that the electrical signals transmitted from palatal sensory receptors of patients with CP might be amplified by a compensation mechanism in the central nervous system. SEFs provide an effective method for objective evaluation of palatal sensation in patients with CP after palatoplasty. Evaluation of SEFs during palatal sensory stimulation in patients with CP after palatoplasty might lead to better corrective surgical methods that also preserve palatal sensation.

Assessment of mandibular symmetry in cleft lip and cleft palate patients

Objective: The objective of this study is to evaluate cleft patients, both unilateral and bilateral clefts and compare them with Skeletal base Class I patients for symmetry using orthopantomogram. Materials and Methods: Three groups of patients within age range of 15–25 years: Group I – Normal participants (mean age = 18.33 ± 2.84); Group II – Unilateral cleft lip and cleft palate participants (mean age = 18.74 ± 3.36); and Group III – Bilateral cleft lip and cleft palate participants (mean age = 17.64 ± 3.10) were assessed and compared to each other. Orthopantomogram was analyzed for vertical symmetry. Habets asymmetry index and the Kjellgren's asymmetry index were applied to assess the relative intensity of asymmetry. Results: Significant difference was seen in condylar height (P = 0.029), ramal height (P = 0.046), mandibular body length (P = 0.014), gonial angle (P = 0.035) and condylion–gonian distance (P = 0.044). Kjellberg's symmetry index/condylar ratio was maximally affected by the groups when compared with the Habets asymmetry index. Conclusion: Mandibular asymmetry has been expressed in unilateral cleft lip and palate (CLP) group. Normal group and bilateral CLP group indicated a symmetrical posterior vertical height of the mandible.

Prevalence of dental anomalies in different cleft lip and palate groups

Introduction: Patients with orofacial clefts are usually associated with various dental anomalies. These dental aberrations pose a clinical challenge in treatment planning. Thus, this investigation intends to find the prevalence rate of different types of dental anomalies and their correlation among nonsyndromic cleft patients. Methodology: Orthodontic records of 129 cleft patients classified into different cleft groups were assessed to evaluate the presence of different dental anomalies. Results: The most frequent dental anomaly found in Cleft patients was rotations followed by maxillary lateral incisor agenesis with a prevalence rate of 90.4% and 59.2%, respectively. Maxillary second premolar agenesis, peg-shaped laterals, mandibular second premolar agenesis, and supernumerary teeth showed prevalence rates as 25%, 21%, 7%, and 5%, respectively. There were significant differences in the overall distribution of maxillary lateral incisor agenesis and rotations between patients with Unilateral Cleft Lip and Cleft Palate, Bilateral Cleft Lip and Cleft Palate, Cleft Lip (CL), and Isolated Cleft Palate (ICP). Conclusion: There is a high prevalence of dental anomalies like rotations and maxillary lateral incisor agenesis in different CL and palate patients, which were statistically significant. The presence of such anomalies can deteriorate the already existing functional problem and hence, the study of these anomalies and their treatment is an important step in the rehabilitation of such patients.

Association of the IRF6 rs2235371 and rs861019 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in the Yakut Population

Background: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects. NSCL/P can be broadly divided into cleft lip only (CLO), cleft palate only (CPO), and cleft lip with cleft palate (CLP) based on clinical presentation. The aim of this study was to investigate the relationship between the IRF6 gene polymorphisms and non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Yakut population. Methods and Results: In 23 OFC patients and 58 unrelated control subjects from the Yakut population, we tested two SNPs (rs2235371 and rs861019) with a minor allele frequency of more than 5% in the candidate gene IRF6. We found that the SNP marker rs861019 showed significant differences in allele frequencies (OR=2.07, 95%CI: 1.01–4.23, P=0.04) between the NSCL/P patients and the comparison group. Analysis of allele frequencies for rs861019 SNP in subgroups showed that there was a difference in the frequency between CLP and control (OR=5, 95% CI: 1.61-15.53, P=0.11); however, this result was not significant. Genotype analysis showed significant differences in patients from the CLP subgroup in comparison with controls for homozygous (AA compared with GG) (OR=9.00, 95% CI: 1.03–78.58, P=0.03), heterozygous (GA compared with GG) (OR=5.50, 95% CI: 1.05-28.75, P=0.04,), recessive (GG compared with GA + AA) (OR=6.67, 95% CI: 1.61-27.58; RR=4.78, 95% CI: 1.42–16.10, P=0.008,) and co-dominant (GG compared with GA, compared with AA) (P=0.02) inheritance models. Diplotype analysis showed that the NSCL/P group was more likely to have the [CC]-[GG] diplotype than the comparison group. This diplotype carries the risk GG genotype (rs861019) (30.4%) and does not carry the risk T allele(rs2235371). In the CLP subgroup, two diplotypes ([CT]-[GG] and [CC]-[GG]) were found more often than in the comparison group. Both diplotypes carry the risk GG genotype(rs861019; 33.3%). In the CPO subgroup, the [CT]-[GG] diplotype was more common. In the CLO subgroup, only two diplotypes ([CC]-[GA] and [CC]-[GG]) were found, both of which were more common than in the comparison group (75% and 25%).. It is likely that these results for the CLO and CPO subgroups were influenced by the small size of both samples. Unlike the NSCL/P and CLP groups, in these samples, diplotypes with the homozygous genotype GG (rs861019) without the homozygous genotype TT (rs2235371) were more common. Diplotypes with a homozygous genotype of the TT risk allele were not found in the studied groups except for the comparison group, where the [TT]-[AA] diplotype was represented by a low frequency (0.17%). Conclusion: The present study provides strong statistical support (for the first time to our knowledge) that genetic variants of the IRF6 rs861019 SNP are associated with NSCL/P in Yakuts.

Congenital heart disease in a cohort of Sudanese patients with cleft defects

Background and objectives:Cleft defects are among the most visible congenital defects worldwide and congenital heart disease (CHD)being one of the most common associated anomalies. This study aimed to assess the prevalence of CHDamong a cohort of Sudanese patients with cleft lip and/or palate.Patients and Methods:All patients who presented to Soba University Hospital with cleft lip and/or palate from March 2009 toMarch 2015 were included.Results:Out of 381 patients included; 168 patients (44%) had cleft lip and palate (CLP), 156 (41%) had cleft lip (CL)and isolated cleft palate (CP) was found in 57 patients (15%). Facial dysmorphic features were identifiedin 57 (15%) and cardiac defects in 42 (11%) patients. Ventricular septal defect (VSD) was diagnosed in 16patients (38%), and ASD in 12 (30.9%). Other macroscopic anomalies were identified in 57 patients (15%)and were associated with CHD (P&lt;0.001). Significant association was found between the type of cleft andCHD (P&lt;0.002), as cardiac defects were maximally observed among CP cases (21%) followed by CLPcases (13%) then CL cases (5.12%). Significant association was also found between facial dysmorphicoccurrence and CHD (P &lt; 0.001).Conclusion:CHD is a common anomaly in cleft population. The pattern of CHD is consistent with the literature withVSD being the most frequent. The cardiac defects are most prevalent in CP group. Echocardiography isjustified for screening of CHD due to the relatively higher incidence of CHD among clefts patients than ingeneral population