Primary failure of tooth eruption (PFE) is a rare odontogenic defect and is characterized by failure of eruption of one or more permanent teeth. The aim of the study is to identify the genetic defect in a family with seven affected individuals segregating autosomal dominant non-syndromic PFE. Whole genome single-nucleotide polymorphism (SNP) genotyping was performed. SNP genotypes were analysed by DominantMapper and multiple shared haplotypes were detected on different chromosomes. Four individuals, including three affected, were exome sequenced. Variants were annotated and data were analysed while considering candidate chromosomal regions. Initial analysis of variants obtained by whole exome sequencing identified damaging variants in C15orf40, EPB41L4A, TMEM232, KMT2C, and FBXW10 genes. Sanger sequencing of all family members confirmed segregation of splice acceptor site variant (c.1013-2 A > G) in the KMT2C gene with the phenotype. KMT2C is considered as a potential candidate gene based on segregation analysis, the absence of variant in the variation databases, the presence of variant in the shared identical by descent (IBD) region and in silico pathogenicity prediction. KMT2C is a histone methyltransferase and recently the role of another member of this family (KMT2D) has been implicated in tooth development. Moreover, protein structures of KMT2C and KMT2D are highly similar. In conclusion, we have identified that the KMT2C gene mutation causes familial non-syndromic PFE. These findings suggest the involvement of KMT2C in the physiological eruption of permanent teeth.

Introduction There is secrecy in the literature published about congenital anomalies of head and neck. Dentists may encounter with many head and neck anomalies during their practice. This study aimed to assess the prevalence of head and neck anomalies among all congenital anomalies and to identify risk factors associated with head and neck anomalies. Materials and methods A cross-sectional hospital-based study was conducted on neonate data available in the records of neonate hospitals in Hail; records from 1432 to 1438 in Hijri Islamic calendar (equivalent to 2010–2016) were employed. All neonates from birth to 28 days after, who were born or admitted to these hospitals, were included in this study. Results The prevalence of head and neck anomalies among all congenital anomalies was 5.5%. The highest incidence rate was found in year 1435 (Islamic Hijri Year), in which the incidence rate was 7.1%. Cross tabulation between demographic characteristics and head and neck anomalies revealed that sex of the neonates was significantly associated with head and neck anomalies. The birth weight of the surveyed neonates and consanguinity marriage of the parents had no significant association with head and neck anomalies. Conclusion The occurrence of head and neck anomalies showed a wide variation in different years, and the prevalence among other anomalies is associated significantly with sex of newborn. How to cite this article Assiry AA, Khan SD, Al-Shubrmi HR, et al. Head and Neck Congenital Anomalies in Neonate Hospitals in Hail, Saudi Arabia. Int J Clin Pediatr Dent 2020;13(2):160–162.

Objective: To assess the knowledge of pregnant women regarding their child's oral health. Material and Methods: A questionnaire was developed and the 1st section comprised sociodemographic variables. The second section contained questions about the eruption of teeth, fluoride importance, cariogenic food, and dental visits. The questionnaire was shared electronically via a link to the receptionist of the gynaecologist at different health centres of Najran to be filled by expectant mothers. The convenient sampling method was used to collect the responses. Data were presented using descriptive statistics. Results: A total of 572 pregnant women participated in this survey. Three hundred and fifteen (55.1%) knew that 1st primary tooth erupts at the age of 6 months. The majority of the respondents (n=332) agreed that toothbrushes and toothpaste could be used to clean a child's teeth; only 5.4%, 10%, and 24.5% preferred miswak, mouthwash, and toothbrush, respectively. Participants were well familiar with cariogenic food and occasionally allowed their children to take it. They have enough knowledge about fluoride toothpaste, but they were not familiar with the benefits of fluoride varnish. Almost 50% of the respondents agreed that the child should visit the dentist within six months, and 27.4% said they should visit the dentist whenever there is a problem. Conclusion: Almost 50% of participants showed a positive attitude towards most questions. However, there is a need to improve their behaviour and knowledge about many aspects of dental care.