Diagnosis and initial management of children presenting with premature loss of primary teeth associated with a systemic condition: A scoping review and development of clinical aid.

Background: Premature loss of primary teeth (PLPT) can be a rare presentation of systemic medical conditions. Premature loss of primary teeth may present a diagnostic dilemma to paediatric dentists.

Aims: To identify systemic conditions associated with PLPT and develop a clinical aid.

Establishment of a clinical network for children with amelogenesis imperfecta and dentinogenesis imperfecta in the UK: 4-year experience.

Background: Amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are two groups of genetically inherited conditions resulting in abnormal enamel and dentin formation, respectively. Children and young people may be adversely affected by these conditions, with significant reduction in oral health related quality of life. Dental management of children with AI and DI is often complex, which is exacerbated by the absence of clear referral pathways and scarce evidence-based guidelines.

Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes.

Amelogenesis imperfecta (AI) comprises a group of rare, inherited disorders with abnormal enamel formation. Ameloblastin (AMBN), the second most abundant enamel matrix protein (EMP), plays a critical role in amelogenesis. Pathogenic biallelic loss-of-function variants are known to cause recessive hypoplastic AI.

Heterozygous variants are a frequent cause of amelogenesis imperfecta.

Background: Collagen XVII is most typically associated with human disease when biallelic variants (>230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI), a developmental enamel defect. Despite recognition that heterozygous carriers in JEB families can have AI, and that heterozygous variants also cause dominant corneal epithelial recurrent erosion dystrophy (ERED), the importance of heterozygous variants causing dominant non-syndromic AI is not widely recognised.

Methods: Probands from an AI cohort were screened by single molecule molecular inversion probes or targeted hybridisation capture (both a custom panel and whole exome sequencing) for variants.

British Society of Paediatric Dentistry: A policy document on dental neglect in children.

The British Society of Paediatric Dentistry's (BSPD) first policy document on dental neglect was published online in 2009. It proposed a new original definition of dental neglect, discussed the identification of dental neglect and recommended adopting a tiered response, with three stages of intervention according to level of concern. Furthermore, it detailed how the dental team should both contribute to the child protection process and implement wider measures to safeguard and promote children's welfare.