Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.

Skeletal Class III (SCIII) is among the most challenging craniofacial dysmorphologies to treat. There is, however, a knowledge gap regarding which syndromes share this clinical phenotype. The aims of this study were to: (i) identify the syndromes affected by the SCIII phenotype; (ii) clarify the involvement of maxillary and/or mandibular structures; (iii) explore shared genetic/molecular mechanisms. A two-step strategy was designed: [Step#1] OMIM, MHDD, HPO, GeneReviews and MedGen databases were explored; [Step#2]: Syndromic conditions indexed in [Step#1] were explored in Medline, Pubmed, Scopus, Cochrane Library, WOS and OpenGrey. Eligibility criteria were defined. Individual studies were assessed for risk of bias using the New Ottawa Scale. For quantitative analysis, a meta-analysis was conducted. This scoping review is a hypothesis-generating research. Twenty-two studies met the eligibility criteria. Eight syndromes affected by the SCIII were targeted: Apert syndrome, Crouzon syndrome, achondroplasia, X-linked hypohidrotic ectodermal dysplasia (XLED), tricho-dento-osseous syndrome, cleidocranial dysplasia, Klinefelter and Down syndromes. Despite heterogeneity between studies [p < 0.05], overall effects showed that midface components were affected in Apert and Down Syndromes, lower face in Klinefelter Syndrome and midface and lower face components in XLED. Our review provides new evidence on the craniofacial characteristics of genetically confirmed syndromes exhibiting the SCIII phenotype. Four major regulatory pathways might have a modulatory effect on this phenotype. IMPACT: What does this review add to the existing literature? To date, there is no literature exploring which particular syndromes exhibit mandibular prognathism as a common trait. Through this research, it was possibly to identify the particular syndromes that share the skeletal Class III phenotype (mandibular prognathism) as a common trait highlighting the common genetic and molecular pathways between different syndromes acknowledging their impact in craniofacial development.

Retrospective Study of Oral and Maxillofacial Trauma in Portuguese Population.

Objective: The increasing significance of medicolegal evaluation following maxillofacial traumatic events constitutes a complex issue. This clinical research aimed to assess the current etiology of oral and maxillofacial injuries in Portuguese population. Material and methods: An epidemiological clinical observational study was conducted in Centro Hospitalar Lisboa Norte on a sample of 384 subjects diagnosed with oral and maxillofacial trauma, between 2018 and 2020. Data were collected through clinical reports and analyzed using SPSS version 27. Results: Women and men were nearly identical in the number and distribution, with 49.5% females and 50.5% males. In 2020, there was a decrease in the number of traumatic incidents compared to other years. Falls or accidental descents were found to be the most common cause of injury, accounting for 44.3%, followed by assaults accounting for 24.7%. A total of 84 subjects exhibited soft tissue injuries related to periodontal region. The upper central incisors (174) were the most frequently affected teeth with uncomplicated fractures, and the predominant form of treatment was the administration of pain medication. Conclusion: A correlation between falls or accidental descents, female subjects, and advancing age, as well as between assaults, male subjects, and adults, has been established. Falls or accidental descents and assault were the predominant etiologies, and the year 2020 exhibited a decrease in the incidents of traumatic events.

Anatomic factors related to bisphosphonate osteonecrosis of the jaws: a Portuguese retrospective study.

AIMS: The objectives of this study of bisphosphonate-related osteonecrosis of the jaws (BRONJ) were to determine local distribution, possible anatomically associated or determinant factors and other bone involvement of the disease, contributing with this new data towards the establishment of its prevalence in Portugal. MATERIAL AND METHODS: The authors made a retrospective study of patients presenting BRONJ, at the Department of Stomatology of Santa Maria University Hospital, in Lisbon (42 cases) from 1st January 2004, to April 30rd, 2011. SPSS Statistics was implemented. RESULTS: There was a higher prevalence of lesions in the lower jaw (66.7%), compared to the upper jaw (26.19%) and a significantly higher occurrence in alveolar bone (95.24%). The molars and premolars were the most affected areas (highest value at 6th sextant = 35.29%). In all cases, the onset of injury occurred after a medication period of up to 90 days, spontaneously in 14.29% of patients. CONCLUSIONS: For severity, BRONJ was a significant anatomoclinical entity in all 42 new cases in this study, and for discomfort (pain) in 81.1% of them. There was an anatomic correlation between the occurrence of the disease and its location in the jaws. There was a clinical association with trauma and type, route and length of administration of the bisphosphonate, with Zoledronate being administered intravenously in 76.19% of the cases. The jaws were the unique place where the disease occurred. Preventive measures should be implemented, avoiding trauma, and performing surgical procedures within 90 days after prescription.