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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11126392PMC
http://dx.doi.org/10.1038/s41390-023-02907-5DOI Listing

Publication Analysis

Top Keywords

class iii
8
scoping review
8
syndromes sciii
8
eligibility criteria
8
craniofacial syndromes
4
syndromes class
4
iii phenotype
4
phenotype common
4
common genotype
4
genotype fingerprints?
4

Similar Publications

The morbidity and mortality of sepsis remain high. Clinicians lack effective markers to rapidly diagnose sepsis and identify the underlying pathogen infection particularly for patients with candidaemia or cases of culture-negative sepsis where culture-based diagnostics are inadequate. In our search for new lines of potential sepsis biomarkers, we here explore the impact of various classes of infectious agents on the serum -glycome in a septic shock cohort.

View Article and Find Full Text PDF

Background: Oral cancer screening programs can aid in the early identification of potentially malignant oral lesions. The objective of the present study was to evaluate the effectiveness of the Oral Rub and Rinse (ORR) technique as an oral cancer screening tool and to test its potential in detecting genetic alterations in exfoliated cells obtained through ORR.

Methods: The screening programs were conducted in rural Dakshina Kannada and Udupi districts in Karnataka.

View Article and Find Full Text PDF

Background: In the last two decades, robotic-assisted gastrectomy has become a widely adopted surgical option for gastric cancer (GC) treatment. Despite its popularity, postoperative complications can significantly deteriorate patient quality of life and prognosis. Therefore, identifying risk factors for these complications is crucial for early detection and intervention.

View Article and Find Full Text PDF

A reliable and objective method of measuring soft tissue changes in 2D photographs after distraction osteogenesis in individuals with CL/P.

J Plast Surg Hand Surg

January 2025

Department of Clinical Sciences in Malmö, Lund University, Lund, Sweden; Department of Oral and Maxillofacial Surgery, Skåne University Hospital, Malmö, Sweden; Department of Orthodontics, Malmö University, Malmö, Sweden.

Pre- and postoperative photos to assess results are widely used in plastic and reconstructive surgery, for instance, in patients with cleft lip and palate (CL/P). Evaluations are often performed by assessment panels by viewing the photos. However, these are prone to be subjective.

View Article and Find Full Text PDF

Impact of Maxillomandibular Sagittal Variations on Upper Airway Dimensions: A Retrospective Cross-sectional CBCT Evaluation.

J Contemp Dent Pract

October 2024

Department of Oral and Maxillofacial Surgery, College of Dentistry, Ibn Al-Nafis University for Medical Sciences, Sana'a, Yemen, Phone: +86 18682960907, e-mail: Orcid: https://orcid.org/0000-0002-6906-8279.

Aim: This study aimed to analyze the upper airway dimensions in adult patients with different anteroposterior (sagittal) skeletal malocclusions (class I, II, and III) using cone beam computed tomography (CBCT) imaging.

Materials And Methods: This retrospective cross-sectional study involved 90 CBCT records from adult subjects who were categorized into three skeletal groups based on their ANB values: Class I ( = 30), class II ( = 30), and class III ( = 30) and were evaluated. The following upper airway measurements were considered: oropharyngeal airway volume, hypopharyngeal airway volume, pharyngeal airway volume, oropharyngeal airway length, hypopharyngeal airway length, pharyngeal airway length, the most constricted site of the pharyngeal airway, and the most constricted cross-sectional area (MIN-CSA) of the pharyngeal airway.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!