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.

Use of Transcutaneous Electrical Nerve Stimulation (TENS) for the Recovery of Oral Function after Orthognathic Surgery.

The oral functions of patients are markedly diminished immediately after orthognathic surgery, and novel approaches are needed to accelerate their recovery. The aim of this study was to examine the usefulness of weekly applications of transcutaneous electrical nerve stimulation (TENS) for this purpose, based on the evidence of its effectiveness in other types of patients with muscle alterations. Maximum jaw opening, bite force, pain, and facial inflammation were compared between patients receiving TENS and those receiving sham-TENS for 30 min at baseline and weekly over a four-week period after orthognathic surgery and were also compared between the before and after of each procedure. TENS was applied at 220 Hz, applying the maximum intensity tolerated by each individual patient. The TENS procedure was identical for all patients, but the device was not turned on in the sham-TENS group. Patients were blinded to their group membership. Results were analyzed separately in skeletal class II and III patients. Improvements in jaw opening and inflammation were significantly greater in the TENS than in the sham-TENS group, attributable to the muscle relaxation achieved with the procedure. Research is warranted on the benefits of a more frequent application of TENS.