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- ItemOpen AccessBreastfeeding Practices Among Mothers of Children With Orofacial Clefts in an African Cohort(SAGE JOURNALS, 2020-04-01) Adekunle, A.A.; Adamson, O.O.; James, O.; Ogunlewe, M.O.; Butali, A.; Adeyemo, W.L.OBJECTIVE: To carry out a survey of breastfeeding practices and related challenges among mothers with orofacial cleft babies attending the cleft clinic of a tertiary health institution. METHODOLOGY: This was a cross-sectional descriptive study using an interviewer-administered questionnaire. Sample population was all mothers of babies aged between 1 and 18 months with nonsyndromic orofacial clefts attending the cleft clinic of a tertiary health institution in Nigeria. RESULT: A total of 65 mothers participated in the study. Initiation of breastfeeding was reported by the majority (83%, n = 54) of the mothers, and only 18.5% (n = 10) of this proportion continued exclusive breastfeeding. Inability of the babies to suck was reported by 46% (n = 30) of the mothers as being the most important challenge in breastfeeding. There was a significant correlation between the type of cleft and challenge in breastfeeding (Fisher exact P = .001). Sixty-three percent (n = 41) of the mothers reported they received no counseling on overcoming challenges associated with feeding their babies with a cleft at the facility where they delivered. Sixty-nine percent (n = 45) reported they first received nutritional information from the cleft clinic at presentation. The most adopted substitute for breastfeeding was the use of regular feeding bottles (n = 24, 43.6%). CONCLUSION: Rate of initiation of breastfeeding for children with orofacial clefts in this African cohort is higher than reported in other populations despite the low level of nutritional counseling of the mothers after delivery. KEYWORDS: breastfeeding; cleft lip; cleft palate
- ItemOpen AccessComparing the treatment outcomes of absorbable sutures, non-absorbable sutures and tissue adhesives in cleft lip repair – A systematic review.(Sage Publishing, 2021-03-03) Egbunah, U.P.; Adamson, O.O.; Fashina, A.A.; Adekunle, A.A.; James, O.; Adeyemo, W.L.Comparing the Treatment Outcomes of Absorbable Sutures, Nonabsorbable Sutures, and Tissue Adhesives in Cleft Lip Repair: A Systematic Review. https://doi.org/10.1177/1055665621996107. Abstract Objectives: To examine the literature and synthesize the available reports for the best possible option between absorbable, nonabsorbable, and tissue adhesives in cleft lip skin closure. Design: We conducted systematic searches for randomized controlled trials and controlled clinical trials in PubMed, Cochrane, Ovid Medline, and OpenGrey databases. Identified studies were retrieved and assessed for eligibility. All statistical analyses were done with Revman, version 5.4. Interventions: The intervention considered in this systematic review were techniques of cleft lip repair using resorbable sutures, nonabsorbable sutures, medical adhesives, or any combination of these. Outcome Measures: The primary outcomes assessed in the trials had to include any combination of the following: wound healing cosmesis and wound healing complications. While secondary outcomes considered were quality of life, direct and indirect costs to patients and health services, and participant satisfaction. Results: Only 6 studies met all inclusion criteria and were selected for qualitative analysis. A more favorable wound healing cosmesis was seen when nonabsorbable suture was used in cleft lip repair compared to absorbable sutures and tissue adhesives (CI, 0.65-4.35). This advantage was overshadowed by the significantly higher prevalence of postoperative complications when non-absorbable sutures are used. Conclusion: Although the results point to more favorable cosmesis with nonabsorbable sutures and an overall more favorable outcome with either absorbable sutures or tissue adhesives, the 6 selected studies were assessed at an unclear risk of bias; therefore, the results of this study should be interpreted with caution and regarded as low-certainty evidence. Keywords: absorbable suture, nonabsorbable suture, tissue adhesives, cleft lip repair, systematic review
- ItemOpen AccessComparison of sensitivity of bacteria isolated in odontogenic infections to ceftriaxone and amoxicillin-clavulanate(Afr Health Sci, 2019-09-30) Adamson, O.O.; Adeyemi, M.O.; Gbotolorun, O.M.; Oduyebo, O.O.; Odeniyi, O.; Adeyemo, W.L.Background: Odontogenic infections is a cause of mortality and morbidity in maxillofacial patients. This is largely due to resistance of organisms to antibiotics prescribed. Objectives: To isolate organisms involved in odontogenic infections and compare the sensitivity of the organisms to Ceftriaxone and Amoxicillin-Clavulanate. Methods: The causative organisms and antibiotic sensitivity were determined by the following steps: Aspiration of pus done with needle, sample of pus or exudate collected using sterile swab if aspiration was unsuccessful and specimen were placed in transport media (thioglycolatebroth) and sent immediately to microbiology laboratory for culture of organisms and antibiotic sensitivity. Results: Out of a total 55 samples taken for bacteriology, 42 (76.4%) yielded positive culture for bacteria. A total number of 21 bacteria species were identified from the positive cultures. Overall, 52% of isolated organisms were sensitive to amoxicillin-clavulanate, 70% were sensitive to Ceftriaxone while 24% were resistant to both antibiotics (Table 3). Ceftriaxone was statistically significantly more potent in inhibiting bacteria growth than amoxicillin-clavulanate (P =0.009).
- ItemOpen AccessCongenital heart defects in orofacial cleft: A prospective cohort study(Wolters Kluwer - Medknow, 2021-07-27) Erinoso, O.A.; James, O.; Sokunbi, O.J.; Adamson, O.O.; Adekunle, A.A.; Agbogidi, F.O.; Ogunlewe, A.O.; Ekure, E.N.; Adeyemo, W.L.; Ladeinde, A.L.; Ogunlewe, M.O.Background: Congenital heart defects (CHDs) are one of the most common associated anomalies in patients with an orofacial cleft (OFC). However, few studies have shown the association between cleft type and CHDs in our population. This study aimed to assess the prevalence of CHDs in a cohort of OFC patients at a tertiary health facility in Nigeria, as well as assess the risk of CHD by OFC type. Materials and Methods: This was a prospective study design. Patients with an OFC were consecutively enrolled at a single OFC treatment facility. All subjects were assessed by a paediatric cardiologist and had echocardiography done. They were categorised based on the presence of CHDs, as well as the OFC phenotypic type (cleft lip and/or alveolus, cleft lip and palate and cleft palate only). Statistical analysis was done using STATA version 14 (College Station, Texas), and significance was set at P < 0.05. Results: A total of 150 subjects enrolled in the study over a period of 2 years(2018–2020). The median age of subjects was 6 months(interquartile range: 2–24), and 54.7% were female. The prevalence of CHDs in the subjects reviewed was 30.7%. Based on the severity of CHDs, the majority presented with simple defects(95.6%). Overall, the most common presentation was patent foramen ovale (12.7%), followed by septal defects (8.0%). There was no significant association between cleft type and the odds of a CHD. Conclusion: The study reports a relatively high prevalence of CHDs in patients with OFC; however, there was no association between the risk of CHD by cleft type. Although a majority of CHDs may pose a low operative risk, cardiac evaluation is recommended for all cases of OFC to aid the identification of potentially high‑risk cases. Keywords: Cleft lip and palate, cleft lip, cleft palate, congenital heart defects, non-syndromic clefts, syndromic clefts
- ItemOpen AccessCorrelation Between Height and Impacted Third Molars and Genetics Role in Third Molar Impaction(Springer, 2020-02-01) Adeyemo, W.L.; James, O.; Oladega, A.A.; Adamson, O.O.; Adekunle, A.A.; Olorunsola, K.D.; Tamara, B.; Butali, A.Aim: This study sought to evaluate the relationship between height of an individual and presence of impaction of maxillary and mandibular third molars, and to determine the role of genetics in third molar impaction. Material and Methods: This was a case-control study, with cases consisted of 200 subjects with third molar impactions; and 200 controls without third molar impactions. Height of subjects was measured and saliva samples were collected from all the subjects. DNA was extracted from saliva samples. To investigate the role of selected genes in the aetiology of third molar impactions, Taqman Genotyping using SNPs identified for jaw growth, height and tooth agenesis was employed. Five candidate genes were investigated using 11 markers (SNPs). Results: The mean height of cases was significantly lower than that of the control subjects (P=0.04). No difference was found in allele frequency between cases and controls for 10 of the 11 SNPs. However, for rs6504591 the P-value was near significance (P= 0.07) with Odd Ratio of 2.131. Subjects with lower third molar impactions were significantly shorter than those who have fully erupted third molars. Conclusions: Subjects with lower third molar impactions were significantly shorter than those who have fully erupted third molars. We observed that individuals with third molar impaction tend to have T allele at the locus suggesting that the T allele at the locus may increase the risk for having an impacted third molar. The rs6504591 G/T variation on human chromosome 17 (WNT9B gene) appears to increase risk by 2 folds for impaction albeit with inability to detect significance due to small sample size. Keywords: Third molars; impactions; height; genetics; WNT9B https://rdcu.be/b03rq
- ItemOpen AccessEvaluation of the effect of TSH on the growth pattern of children with non-syndromic cleft lip and palate.(IADR, Nigerian Chapter, 2021-12-15) Adamson, O.O.; Agbogidi, F.O.; Adekunle, A.A.; Ezenwa, B.; James, O.; Adeyemo, W.L.; Ladeinde, A.L.; Ogunlewe, M.O.INTRODUCTION Congenital defect created by oro-facial clefts results in uncoordinated and ineffective intraoral suction. Thyroid hormones, along with insulin, growth hormone, glucocorticoids and other hormones, regulate body protein metabolism and have been closely linked to the processes involved in growth and development. This study evaluates the effect of TSH on the growth pattern of children with non-syndromic cleft lip and palate. METHOD All newborn babies at first presentation to the Lagos University Teaching Hospital cleft clinic from January 2019 - December 2020 were included in this study. Progressive weight, length and head circumference was taken every 3months over a 1-year period. At age 9 months, blood sample was taken from babies for TSH assay. Collected data was analysed with SPSS version 20. RESULTS There were thirty participants with 13 (43.3%) females and 17 (56.7%) males. The mean birth weight of patients was 3.4kg ± 0.6 S.D. The height of children in the first year is generally lower than that of National average of Nigeria for non cleft child of the same age, though the rate of growth is similar. All anthropometric measurements except mid-arm circumference have negative correlation with TSH value at 9-month, though all are not statistically significant. CONCLUSION Rate of growth generally of children with cleft lip and palate is slower than that of national average though there seems to be a catch-up by age 1. Rate of growth is not affected by the level of TSH in this study.
- ItemOpen AccessGenome-wide scan for parent-of-origin effects in a sub-Saharan African Cohort with non-syndromic cleft lip and/or cleft palate (CL/P)(Sage Publishing, 2021-08-12) Gowans, L.J.J.; Comnick, C.L.; Mossey, P.A.; Eshete, M.A.; Adeyemo, W.L.; Naicker, T.; Awotoye, W.A.; Petrin, A.; Adeleke, C.; Donkor, P.; Busch, T.; James, O.; Ogunlewe, M.O.; Li, M.; Olotu, J.; Hassan, M.; Adeniyan, O.A.; Obiri-Yeboah, S.; Arthur, F.K.N.; Agbenorku, P.; Oti, A.A.; Olatosi, O.; Adamson, O.O.; Fashina, A.A.; Zeng, E.; Marazita, M.L.; Adeyemo, A.A.; Murray, J.C.; Butali, A.Objective: Nonsyndromic cleft lip and/or cleft palate (NSCL/P) have multifactorial etiology where genetic factors, gene-environment interactions, stochastic factors, gene-gene interactions, and parent-of-origin effects (POEs) play cardinal roles. POEs arise when the parental origin of alleles differentially impacts the phenotype of the offspring. The aim of this study was to identify POEs that can increase risk for NSCL/P in humans using a genome-wide dataset. Methods: The samples (174 case-parent trios from Ghana, Ethiopia, and Nigeria) included in this study were from the African only genome wide association studies (GWAS) that was published in 2019. Genotyping of individual DNA using over 2 million multiethnic and African ancestry-specific single-nucleotide polymorphisms from the Illumina Multi-Ethnic Genotyping Array v2 15070954 A2 (genome build GRCh37/hg19) was done at the Center for Inherited Diseases Research. After quality control checks, PLINK was employed to carry out POE analysis employing the pooled subphenotypes of NSCL/P. Results: We observed possible hints of POEs at a cluster of genes at a 1 mega base pair window at the major histocompatibility complex class 1 locus on chromosome 6, as well as at other loci encompassing candidate genes such as ASB18, ANKEF1, AGAP1, GABRD, HHAT, CCT7, DNMT3A, EPHA7, FOXO3, lncRNAs, microRNA, antisense RNAs, ZNRD1, ZFAT, and ZBTB16. Conclusion: Findings from our study suggest that some loci may increase the risk for NSCL/P through POEs. Additional studies are required to confirm these suggestive loci in NSCL/P etiology. Keywords: epigenetics; gene–environment interactions; nonsyndromic cleft lip and/or cleft palate; parent-of-origin effects; sub-Saharan Africans.
- ItemOpen AccessGenomic analyses in African populations identify loci for cleft palate(Oxford Academic, 2019-03-15) Butali, A.; Mossey, P.A.; Adeyemo, W.L.; Eshete, M.A.; Gowans, L.J.J.; Busch, T.; Jain, D.; Yu, W.; Huan, L.; Laurie, C.C.; Laurie, C.A.; Nelson, S.; Li, M.; Sanchez-Lara, P.A.; Magee, W.P.; Magee, K.S.; Auslander, A.; Brindopke, F.; Kay, D.M.; Caggana, M.; Romitti, P.A.; Mills, J.L.; Audu, R.; Onwuamah, C.; Oseni, G.O.; Owais, A.; James, O.; Olaitan, P.B.; Aregbesola, B.S.; Braimah, R.O.; Oginni, F.O.; Oladele, A.O.; Bello, S.A.; Rhodes, J.; Shiang, R.; Donkor, P.; Obiri-Yeboah, S.; Arthur, F.K.N.; Twumasi, P.; Agbenorku, P.; Plange-Rhule, G.; Oti, A.; Ogunlewe, M.O.; Oladega, A.A.; Adekunle, A.A.; Erinoso, A.O.; Adamson, O.O.; Elufowoju, A.A.; Ayelomi, O.I.; Hailu, T.; Hailu, A.; Demissie, Y.; Derebew, M.; Eliason, S.; Romero-Bustillous, M.; Lo, C.; Park, J.; Desai, S.; Mohammed, M.; Abate, F.; Abdur-Rahman, L.O.; Anand, D.; Saadi, I.; Oladugba, A.V.; Lachke, S.A.; Amendt, B.A.; Rotimi, C.N.; Marazita, M.L.; Cornell, R.A.; Murray, J.C.; Adeyemo, A.A.Orofacial clefts are common developmental disorders that pose significant clinical, economical and psychological problems. We conducted genome-wide association analyses for cleft palate only (CPO) and cleft lip with or without palate (CL/P) with ~17 million markers in sub-Saharan Africans. After replication and combined analyses, we identified novel loci for CPO at or near genome-wide significance on chromosomes 2 (near CTNNA2) and 19 (near SULT2A1). In situ hybridization of Sult2a1 in mice showed expression of SULT2A1 in mesenchymal cells in palate, palatal rugae and palatal epithelium in the fused palate. The previously reported 8q24 was the most significant locus for CL/P in our study, and we replicated several previously reported loci including PAX7 and VAX1.
- ItemOpen AccessThe impact of COVID-19 pandemic on cleft care services at a tertiary health facility in Nigeria(Sage Publishing, 2021-10-11) Sabo, V.Y.; James, O.; Adamson, O.O.; Otoghile, B.; Adeyemo, W.L.; Ladeinde, A.L.; Ogunlewe, M.O.Background: This study assessed the impact of COVID-19 Pandemic on cleft care services at a Nigerian tertiary health facility and the adaptations made during and after the population quarantine period. Methodology: A prospective and retrospective survey of all patients with orofacial cleft who had cleft surgeries, orthodontic interventions, and speech therapy in isolation or any of the combination was carried out. The survey period was divided into pre-COVID-19 lockdown period, the COVID-19 lockdown period, and the post-COVID-19 lockdown period with each of the periods spanning 4 months. The data which include: number of cleft clinic attendance, number of cleft surgical procedures, orthodontic interventions, and speech therapy session were retrieved from patients’ case records in the cleft and orthodontic clinics. The data was also reported for each period and represented as numbers and percentages. The trend of cleft services was plotted as line graphs and the impact of the COVID-19 pandemic on cleft care services is said to be significant when P value is <.005. Result: During the COVID-19 Lockdown period, there was a 66% drop in level of cleft clinic attendance, 78% drop in cleft surgeries, 78% drop in Orthodontic interventions, and a 58% drop in the number of Speech Therapy sessions. After the Lockdown period, the clinic attendance increased by a 190%, cleft surgeries rose by more than 10-fold, and the orthodontic interventions increased 10-fold. The speech therapy sessions dwindled further by 6% during the post-COVID-19 Lockdown period. The drop in cleft care service during the study period was significant (P = .001). The post Lockdown surge in cleft care services was also statistically significant (P = .001). Conclusion: The COVID-19 pandemic significantly altered the volume of cleft care services but also with a significant rebound post-lockdown period.
- ItemOpen AccessManagement of Oro-facial Cleft in Nigeria: Review of One Centre Experience.(Wolters Kluwer - Medknow, 2020-12-23) James, O.; Adekunle, A.A.; Adamson, O.O.; Agbogidi, O.F.; Adeyemo, W.L.; Butali, A.; Ladeinde, A.L.; Ogunlewe, M.O.Introduction: Orofacial clefts (OFCs) are among the most common craniofacial developmental abnormalities worldwide and a significant cause of childhood morbidity and mortality. This study aimed to identify patterns of patient presentation, treatment approaches, and changes in our overall cleft care service between 2007 and 2019. Methods and Methodology: A retrospective review of patients managed at a tertiary health facility in Nigeria of all OFC cases operated between 2007 and 2019 was done using the postintervention data retrieved from the Smile Train database. Data of all OFC cases operated within the period were analyzed using the Statistical Package for the Social Sciences. Descriptive statistics were performed using the Statistical Package for the Social Sciences version 20.0. Results: A total number of 740 OFC surgeries were performed in 565 patients, consisting of 269 females (48.2%) and 289 males (51.8%). The majority (63%) of the patients presented before the age of 2 years. Thirty‑seven percent presented with cleft lip and alveolus, 27.1% with cleft palate only, and 36.7% with cleft lip, alveolus, and palate. Primary cleft lip repair was the most performed surgery (n = 320, 43.2%), the mean age at repair was 2.1 years. Since 2017, additional services such as speech therapy, mixed dentition orthodontics, and nutritional support were added to services provided to our cleft patients. Fifteen patients have undergone speech assessment and three have completed speech treatment. Eight patients have undergone mixed dentition stage orthodontic treatment. Discussion: Our services have evolved from simply providing surgical care to comprehensive care with a multidisciplinary team approach and provision of a wide range of services including nutritional counseling, pediatric care, orthodontic services, and speech therapy. We believe these will improve the overall well‑being of our patients while we continue to improve on services based on clinical research outcomes.
- ItemOpen AccessMissense Variants Within GJB2 Gene Locus and the Risk of Hearing Defects in Non-syndromic Cleft Lip and Palate.(Wolters Kluwer, 2021-06-30) Adeyemo, W.L.; James, O.; Bamigboye, B.A.; Akinola, M.D.; Adamson, O.O.; Nkemijika, B.N.; Ibikunle, A.A.; Ogunlewe, M.O.; Ladeinde, A.L.; Butali, A.Aim: The aim of the study was to investigate the role of variants in GJB2 gene in the etiology of hearing defects in non-syndromic cleft lip/palate. Method: Saliva samples were obtained from cases (subjects with orofacial clefts) and control (subjects without orofacial clefts) who consented to the study. Deoxyribonucleic acid (DNA) was extracted using standardized protocol at Butali Lab (Iowa, IA). Primers for the coding region of GJB2 was designed using Primer 3 (http://bioinfo.ut.ee/primer3-0.4.0/) and optimized in the Butali lab using a gradient polymerase chain reaction to determine the annealing temperature for each primer set (forward and reverse). We measured the DNA concentration using Qubit and XY genotyping done for quality control. A concentration of 5 ng/μL of DNA was used for Sanger sequencing. Results: A total of 150 subjects were sequenced (66 cases; 84 controls). Mutations in GJB2 gene were detected in 2 individuals with cleft palate. We found p.Arg165Trp variant in 1 case and p.Leu81Val variant in the second case. Although p.Arg165Trp was predicted to be either benign or tolerated by SIFT/POLYPHEN, the single nucleotide change from C>T, that is, CGG>TGG leads to a premature stop codon preventing the protein formation. The p.Leu81Val variant was predicted to be probably damaging/ deleterious. Conclusions: The present study implicates variants in the GJB2 gene in the etiology of hearing defects in non-syndromic cleft lip and palate in the Nigerian population. Screening for variations in GJB2 gene is important for genetic counseling especially in high-risk families.
- ItemOpen AccessPresentation and Management of Atypical Orofacial Clefts: A Single-Institution Experience for 13 Year Period(Sage Publishing, 2021-11-17) James, O.; Sabo, V.Y.; Adamson, O.O.; Otoghile, B.; Adekunle, A.A.; Adeyemo, W.L.; Ladeinde, A.L.; Ogunlewe, M.O.Objective This study reviews the craniofacial clefts that presented at a Nigerian tertiary health facility, highlighting our experience with the pattern of presentation and surgical care of these patients. Design A retrospective review of the smile train database and medical records of all individuals who had been diagnosed with any of the Tessier craniofacial clefts and managed between 1st January 2007 and 31st December 2020 was done. The data were presented as numbers and percentages of cases. Setting The cleft clinic of a tertiary health facility and a major cleft referral center in South-West Nigeria. Results Forty-five patients with craniofacial clefts were managed over the study period. 15.6% had associated syndromes, 2.2% had a family history of similar craniofacial cleft and 11% had a history of a possible teratogen. There were 21 (46.7%) middle clefts, 14(31.1%) lateral clefts and 10(22.2%) oblique clefts. The most common type of cleft was Tessier 0 while the Tessier 6 was the least common type. The median age at surgery was 10 months for male and 5months for female subjects, 15.3% complication rate was found in this study. Four patients had revision surgeries to correct residual deformities in this study. Conclusion The diverse presentations and occurrence of the rare craniofacial clefts present complex aesthetic and functional problems that require individualized often multidisciplinary care. The execution of a properly planned treatment will reduce complications and the need for revision surgeries.
- ItemOpen AccessRisks of congenital cardiovascular anomalies in patients with non-syndromic orofacial cleft: A preliminary case-control study(Wolters Kluwer - Medknow, 2020-11-21) James, O.; Erinoso, O.A.; Adamson, O.O.; Sokunbi, O.J.; Agbogidi, F.O.; Adekunle, A.A.; Ogunlewe, A.O.; Ekure, E.N.; Adeyemo, W.L.; Ladeinde, A.L.; Ogunlewe, M.O.Background: Orofacial clefts (OCs) are one of the most common craniofacial anomalies and are reported to be associated with congenital cardiovascular anomalies (CCAs). However, there is paucity of data in African populations on the risk of CCAs in OC patients compared to the general population. Aims: This study aims to determine the odds of congenital cardiovascular anomalies in patients with OC compared to the general population. Subjects and Methods: A case‑control study design was used. Case subjects were non‑syndromic OC subjects, while controls were non‑syndromic subjects without OC. All subjects were thoroughly assessed by a pediatric cardiologist for CCAs; and grouped by OC phenotypic type (cleft lip and/or alveolus, cleft lip and palate, cleft palate only and Tessier cleft). Statistical analysis was done using STATA version 14 (College Station, Texas), and significance was placed at P value ≤0.05. Results: A total of 120 subjects (60 cases and 60 controls) were enrolled in the study. In total, 23.3% of the subjects had CCAs. Among the case group, 40% had CCAs compared to 6.7% in the control group. Patent foramen ovale (18.3%) and atrial septal defects (10.0%) were the most common type of CCAs in cases, respectively. Further, cases had significantly higher odds of CCAs compared to controls (OR: 9.3; CI: 2.8, 39.4). Conclusions: Our finding reveals that the odds of CCAs are significantly higher in patients with OC than the general population. Future studies could assess the effect of CCAs on surgical outcome.
- ItemOpen AccessVariant Analyses of Candidate Genes in Orofacial Clefts in Multi-Ethnic Populations(Wiley, 2021-06-01) Li, M.; Olotu, J.; Buxo-Martinex, C.J.; Mossey, P.A.; Anand, D.; Busch, T.; Alade, A.; Gowan, L.J.J.; Eshete, M.; Adeyemo, W.L.; Naicker, T.; Awotoye, W.O.; Adamson, O.O.; James, O.; Ogunlewe, M.O.; Marazita, M.L.; Adeyemo, A.A.; Murray, J.C.; Butali, A.Objectives Cleft lip with/without cleft palate and cleft palate only are congenital birth defects where the upper lip and/or palate fail to fuse properly during embryonic facial development. Affecting ~1.2/1000 live births world-wide, these orofacial clefts impose significant social and financial burdens on affected individuals and their families. Orofacial clefts have a complex etiology resulting from genetic variants combined with environmental covariates. Recent genome-wide association studies and whole-exome sequencing for orofacial clefts identified significant genetic associations and variants in several genes. Of these, we investigated the role of common/rare variants in SHH, RORA, MRPL53, ACVR1, and GDF11. Materials and Methods We sequenced these five genes in 1255 multi-ethnic cleft lip with/without palate and cleft palate only samples in order to find variants that may provide potential explanations for the missing heritability of orofacial clefts. Rare and novel variants were further analyzed using in-silico predictive tools. Results 19 total variants of interest were found, with variant types including stop-gain, missense, synonymous, intronic, and splice-site variants. Of these, 3 novel missense variants were found, one in SHH, one in RORA, and one in GDF11. Conclusion This study provides evidence that variants in SHH, RORA, MRPL53, ACVR1, and GDF11 may contribute to risk of orofacial clefts in various populations.
- ItemOpen AccessVariations in Facial Anthropometric Measurements Among Major Ethnic Groups in Nigeria: A 3-Dimentional Stereophotogrammetry Analysis.(Sage Publishing, 2021-07-04) Adekunle, A.A.; Olowo, A.Y.; Adetona, M.; James, O.; Adamson, O.O.; Agbogidi, F.O.; Oladega, A.; Ogunlewe, M.O.; Adeyemo, W.L.; Busch, T.; Mossey, P.A.; Marazita, M.L.; Butali, A.Objectives: The aim of the study is to highlight variations in facial anthropometric measurements among the major ethnic groups in Nigeria using 3D photogrammetry. Materials and Methods: This study was conducted in Lagos, Nigeria. Acquisition of 3D facial photographs was done using a Vectra H1 portable 3D photogrammetry imaging system. Descriptive analysis of collected data was done and a test of associations performed using independent samples t-test. The level of significance was set at <.05. Results: The total number of participants in this study was 503. The study population was made up of 302 (60%) males and 201 (40%) females. Mean upper facial height among Yoruba, Igbo, Hausa, and other ethnic groups were 68.93 ± 5.85, 70.18 ± 5.99, 63.79 ± 4.80, and 69.29 ± 5.95 mm respectively, while mean interpupillary distances were 66.99 ± 3.70, 67.34 ± 3.56, 66.73 ± 3.80, and 67.09 ± 3.72 mm respectively. A Tukey posthoc test revealed significant pairwise differences for upper facial height between the Yoruba and Hausa population with a mean difference of 5.15 mm (P < .001, 95% CI 2.94-7.35) (P < .001, 95% CI 2.94-7.35), and Hausa and Igbo population with a mean difference of 6.39 mm (P < .001, 95% CI 3.75-9.03). Multivariate regression analysis confirmed the presence of significant inter-ethnic differences between Hausa ethnic group and the Yoruba ethnic group for midfacial height (P < .001), upper lip height (P = .004), lower lip height (P = .003), total face height (P = .010), and orbital fissure width (P < .001). Conclusion: The result of this study shows that distinct difference does exist in the facial anthropological measurements between the ethnicities included in this study especially in vertical facial measurements.