Management of rare ectopic teeth eruption: case series

Objectives@#An ectopic tooth is a rare eruption of a tooth out of the normal dental apparatus and occurs commonly with the third molar. Thus, in this study, we reported a case series of ectopic teeth in rare jaw locations and highlight the associated pathology and our experience in the surgical management. @*Patients and Methods@#All cases of ectopic tooth managed at the Department of Oral and Maxillofacial Surgery, University of Maiduguri Teaching Hospital from January 2011 to December 2020 were reviewed. The information retrieved includes biodata, location of the ectopic tooth, signs, symptoms, type of tooth and associated pathology, surgical approach and complications. @*Results@#Ten cases of ectopic teeth were identified over the study period. This comprised 80.0% males with a mean age was 23.3 years. The antrum and lower border of the mandible accounted for 50.0% and 40.0% of the ectopic locations, respectively. Dentigerous cyst was the most associated pathology (70%) and usually presented with pain and swelling. Surgical intervention predominantly via the intraoral route was performed if indicated. @*Conclusion@#Ectopic teeth are rare and not always associated with pathology. A high index of suspicion and radiological investigation are necessary for diagnosis. A more extensive multi-center study is however recommended to determine the prevalence of ectopic teeth other than the third molar.

Transverse Facial Cleft, Tessier number 7: Case Report of a Rare Congenital Anomaly

@#Transverse facial cleft (TFC), Tessier number 7, is a rare congenital anomaly commonly associated with other anomalies of the first and second branchial arch with varying severity. Risk factors such as alcohol abuse, folic acid deficiency, and ingestion of herbal concoctions in pregnancy have been implicated in this deformity. We report a case of a bilateral transverse facial cleft in a newborn and review the existing literature on the condition to increase awareness and knowledge.

Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.

BACKGROUND: The development of the face occurs during the early days of intrauterine life by the formation of facial processes from the first Pharyngeal arch. Derangement in these well-organized fusion events results in Orofacial clefts (OFC). Van der Woude syndrome (VWS) is one of the most common causes of syndromic cleft lip and/or palate accounting for 2% of all cases. Mutations in the IRF6 gene account for 70% of cases with the majority of these mutations located in the DNA-binding (exon 3, 4) or protein-binding domains (exon 7-9). The current study was designed to update the list of IRF6 variants reported for VWS by compiling all the published mutations from 2013 to date as well as including the previously unreported VWS cases from Africa and Puerto Rico. METHODS: We used PubMed with the search terms; "Van der Woude syndrome," "Popliteal pterygium syndrome," "IRF6," and "Orofacial cleft" to identify eligible studies. We compiled the CADD score for all the mutations to determine the percentage of deleterious variants. RESULTS: Twenty-one new mutations were identified from nine papers. The majority of these mutations were in exon 4. Mutations in exon 3 and 4 had CADD scores between 20 and 30 and mutations in exon 7-9 had CADD scores between 30 and 40. The presence of higher CADD scores in the protein-binding domain (exon 7-9) further confirms the crucial role played by this domain in the function of IRF6. In the new cases, we identified five IRF6 mutations, three novel missense mutations (p.Phe36Tyr, p.Lys109Thr, and p.Gln438Leu), and two previously reported nonsense mutations (p.Ser424*and p.Arg250*). CONCLUSION: Mutations in the protein and DNA-binding domains of IRF6 ranked among the top 0.1% and 1% most deleterious genetic mutations, respectively. Overall, these findings expand the range of VWS mutations and are important for diagnostic and counseling purposes.

Oral health status and treatment needs of in-patients of a Nigerian psychiatric hospital

Objective: Mental disorders have been reported to increase the risk to neglect of oral care. The objective of this study was to determine the oral health and treatment needs of psychiatric in-patients and compare with non-psychiatric patients.Methods: This was a cross-sectional study conducted at the Federal Neuro-psychiatric Hospital, Yaba, Lagos and Lagos University Teaching Hospital, Idi Araba, Lagos. A structured questionnaire was administered by investigators to the two groups of participants case group (psychiatric patient) and the control group (dental patient with no psychiatric history). This included mini international neuropsychiatry interview (M.IN.I)questionnaire to ascertain the diagnoses. Other information sought included missing teeth, retained teeth, carious teeth and tooth wear lesions were noted during oral examination. Results: A total of 167 participants were seen (81 were in the control group and 86 in the case group). Age range was from 18-90 years. The mean age was 41.44±14.98 years. All the participants (2.99%) with retained root were in case group. The majority (52.3%) of the participants in case group were dentate (p=0.001). The control group had the highest proportion of participants with good oral hygiene (p= 0.09). Carious teeth (p =0.33) and the number of teeth affected by tooth wear lesion were found to more in the case group (p= 0.02).Conclusion: Psychiatric patients had poor oral health compared to non-psychiatric patients. There was also a higher restorative and surgical treatment need in psychiatric patients

Unilateral cleft lip repair: a comparison of treatment outcome with two surgical techniques using quantitative (anthropometry) assessment

OBJECTIVES@#The unilateral cleft lip (UCL) repair technique has evolved extensively over the past century into its modern form and has been identified as an important determinant of treatment outcome. The aim of this study was to evaluate and compare treatment outcomes following repair of UCL using either the Tennison-Randall (triangular) technique or the Millard rotation-advancement technique.@*MATERIALS AND METHODS@#This was a prospective randomized controlled study conducted at the Lagos University Teaching Hospital between January 2013 and July 2014. A total of 48 subjects with UCL presenting for primary surgery and who satisfied the inclusion criteria were recruited for the study. The subjects were randomly allocated into two surgical groups through balloting. Group A underwent cleft repair with the Tennison-Randall technique, while group B underwent cleft repair with the Millard rotation-advancement technique. Surgical outcome was assessed quantitatively according to anthropometric measurements, using a method described by Cutting and Dayan (2003).@*RESULTS@#Our 48 enrolled subjects were evenly divided into the two surgery groups (n=24 for both group A and group B). Twenty-seven subjects were male (56.3%) and 21 were female (43.8%), making a sex ratio of 1.3:1. The Millard group showed a greater increase in postoperative horizontal length and vertical lip height and a greater reduction in nasal width and total nasal width. Meanwhile, the Tennison-Randall group showed better reduction of Cupid's-bow width and better philtral height.@*CONCLUSION@#We did not find any significant differences in the surgical outcomes from the two techniques. The expertise of the surgeon and individual patient preferences are the main factors to consider when selecting the technique for unilateral cleft repair.

A comparative study of immediate wound healing complications following cleft lip repair using either absorbable or non-absorbable skin sutures

OBJECTIVES: The aim of the study was to compare wound healing complications following the use of either absorbable or non-absorbable sutures for skin closure in cleft lip repair. MATERIALS AND METHODS: This was a randomized controlled trial conducted at the Department of Oral and Maxillofacial Surgery, Lagos University Teaching Hospital, Idi Araba, Lagos State, Nigeria. Sixty subjects who required either primary or secondary cleft lip repair and satisfied all the inclusion criteria were recruited and randomized into two groups (Vicryl group or Nylon group). The surgical wounds in all subjects were examined on 3rd, 7th, and 14th postoperative days (POD) for presence or absence of tissue reactivity, wound dehiscence, and local wound infection. RESULTS: Hemorrhage, tissue reactivity, wound dehiscence, and local wound infection were identified as wound healing complications following cleft lip repair. The incidence of postoperative wound healing complications on POD3 was 33.3%. Tissue reactivity was more common throughout the evaluation period with the use of an absorbable (Vicryl) suture compared to a non-absorbable (Nylon) suture, although the difference was statistically significant only on POD7 (P=0.002). There were no significant differences in the incidences of wound dehiscence and infection between the two groups throughout the observation period. CONCLUSION: There were no statistically significant differences in the incidences of wound dehiscence and surgical site wound infection following the use of either Vicryl or Nylon for skin closure during cleft lip repair. However, more cases of tissue reactivity were recorded in the Vicryl group than in the Nylon group on POD7. Particular attention must be paid to detect the occurrence of wound healing complications, most especially tissue reactivity, whenever a Vicryl suture is used for skin closure in cleft lip repair.

Unilateral cleft lip repair: a comparison of treatment outcome with two surgical techniques using quantitative (anthropometry) assessment

OBJECTIVES: The unilateral cleft lip (UCL) repair technique has evolved extensively over the past century into its modern form and has been identified as an important determinant of treatment outcome. The aim of this study was to evaluate and compare treatment outcomes following repair of UCL using either the Tennison-Randall (triangular) technique or the Millard rotation-advancement technique. MATERIALS AND METHODS: This was a prospective randomized controlled study conducted at the Lagos University Teaching Hospital between January 2013 and July 2014. A total of 48 subjects with UCL presenting for primary surgery and who satisfied the inclusion criteria were recruited for the study. The subjects were randomly allocated into two surgical groups through balloting. Group A underwent cleft repair with the Tennison-Randall technique, while group B underwent cleft repair with the Millard rotation-advancement technique. Surgical outcome was assessed quantitatively according to anthropometric measurements, using a method described by Cutting and Dayan (2003). RESULTS: Our 48 enrolled subjects were evenly divided into the two surgery groups (n=24 for both group A and group B). Twenty-seven subjects were male (56.3%) and 21 were female (43.8%), making a sex ratio of 1.3:1. The Millard group showed a greater increase in postoperative horizontal length and vertical lip height and a greater reduction in nasal width and total nasal width. Meanwhile, the Tennison-Randall group showed better reduction of Cupid's-bow width and better philtral height. CONCLUSION: We did not find any significant differences in the surgical outcomes from the two techniques. The expertise of the surgeon and individual patient preferences are the main factors to consider when selecting the technique for unilateral cleft repair.

The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa.

BACKGROUND: Orofacial clefts are congenital malformations of the orofacial region, with a global incidence of one per 700 live births. Interferon Regulatory Factor 6 (IRF6) (OMIM:607199) gene has been associated with the etiology of both syndromic and nonsyndromic orofacial clefts. The aim of this study was to show evidence of potentially pathogenic variants in IRF6 in orofacial clefts cohorts from Africa. METHODS: We carried out Sanger Sequencing on DNA from 184 patients with nonsyndromic orofacial clefts and 80 individuals with multiple congenital anomalies that presented with orofacial clefts. We sequenced all the nine exons of IRF6 as well as the 5' and 3' untranslated regions. In our analyses pipeline, we used various bioinformatics tools to detect and describe the potentially etiologic variants. RESULTS: We observed that potentially etiologic exonic and splice site variants were nonrandomly distributed among the nine exons of IRF6, with 92% of these variants occurring in exons 4 and 7. Novel variants were also observed in both nonsyndromic orofacial clefts (p.Glu69Lys, p.Asn185Thr, c.175-2A>C and c.1060+26C>T) and multiple congenital anomalies (p.Gly65Val, p.Lys320Asn and c.379+1G>T) patients. Our data also show evidence of compound heterozygotes that may modify phenotypes that emanate from IRF6 variants. CONCLUSIONS: This study demonstrates that exons 4 and 7 of IRF6 are mutational 'hotspots' in our cohort and that IRF6 mutants-induced orofacial clefts may be prevalent in the Africa population, however, with variable penetrance and expressivity. These observations are relevant for detection of high-risk families as well as genetic counseling. In conclusion, we have shown that there may be a need to combine both molecular and clinical evidence in the grouping of orofacial clefts into syndromic and nonsyndromic forms.

Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population.

Nonsyndromic clefts of the lip and palate (NSCLP) are complex genetic traits. Together, they are classified as one of the most common birth defects with a prevalence of 1/700 live births. Genome-wide association studies (GWAS) for nonsyndromic cleft lip with or without cleft palate (NSCL[P]) revealed significant association for common single nucleotide polymorphisms near genes involved in craniofacial development i.e., MAFB, PAX7, VAX1, ARHGAP29 (ABCA4 locus), and IRF6. Sequencing of protein coding regions of the NSCL(P) GWAS candidate genes or adjacent genes suggest a role for rare functional variants. Replication studies in the African population did not observe any significant association with the GWAS candidate genes. On the other hand, the role of rare functional variants in GWAS candidate genes has not been evaluated in the African population. We obtained saliva samples from case triads in Nigeria and Ethiopia for Sanger sequencing of the GWAS candidate genes (MAFB, PAX7, VAX1, ARHGAP29, and IRF6) in order to identify rare functional variants. A total of 220 African samples (140 Nigerians and 80 Ethiopians) were sequenced and we found the following new rare variants- p.His165Asn in the MAFB gene, p.Asp428Asn in the PAX7, a splice-site variant that creates a new donor splice-site in PAX7. We also found three previously reported missense variants p.Gly466Ser in PAX7; p.Leu913Ser and Arg955His in ARHGAP29. No de novo mutations were found. Future genome-wide association and sequencing studies should be conducted using samples from Africa in order to identify new molecular genetic factors that contribute to the etiology of NSCLP.

Bisphosphonate-Related Osteonecrosis of the Jaw Bone: Radiological Pattern and the Potential Role of CBCT in Early Diagnosis.

OBJECTIVES: To systematize the clinico-radiological symptoms and course of bisphosphonate-related osteonecrosis of jaw bone and toevaluate the diagnostic potential of various radiological techniques to detect mild osteonecrosis in each stage of the disease. MATERIAL AND METHODS: The sample consisted of 22 patients previously diagnosed with extraoral malignant disease. Diagnosis was based on a clinical examination in conjunction to digital panoramic radiography and cone beam computed tomography (CBCT). Two dentomaxillofacial radiologists reviewed all images. RESULTS: Twenty patients showed mandibular involvement clinically, while two others had a maxillary involvement. Four stages of the disease were proposed based on the clinico-radiological findings. Subclinical cortical and lamina dura thickening was detected with only three-dimensional CBCT and periapical images, while ulceration and cortical bone thickening was detected only by three-dimensional CBCT. Mixed sclerotic, lytic bone destruction involving alveolar and basal bone with or without encroachment on the mandibular canal, pathological mandibular fractures were detected by two-dimensional panoramic and three-dimensional CBCT images. Other findings are non healing extraction sockets, periapical radiolucencies, osteolysis, sequestra, oroantral fistula, and periosteal new bone formation. CONCLUSIONS: The present study showed that bisphosphonate-related osteonecrosis of jaw bone occurs in four distinct clinico-radiological stages. For mild cases, panoramic image diagnosis was much less obvious, whereas cone beam computed tomography was able to fully characterise the bony lesions and describe their extent and involvement of neighbouring structures in all cases. Thus cone beam computed tomography might better contribute to the prevention of bisphosphonate-related osteonecrosis of jaw bone as well to the disease management.