Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients

Background: Facioscapulohumeral muscular dystrophy is the third most commonly found type of muscular dystrophy. The aim of this study was to correlate the D4Z4 repeat array fragment size to the orofacial muscle weakening exhibited in a group of patients with a genetically supported diagnosis of FSHD. Methods: Molecular genetic analysis was performed for 52 patients (27 female and 25 male) from a group that consisted of 36 patients with autosomal dominant pedigrees and 16 patients with either sporadic or unknown family status. The patients were tested with the southern blotting technique, using EcoRI/Avrll double digestion, and fragments were detected by a p13E-11 telomeric probe. Spearman’s correlation was used to compare the fragment size with the degree of muscle weakening found in the forehead, periocular and perioral muscles. Results: A positive non-significant correlation between the DNA fragment size and severity of muscle weakness was found for the forehead (r = 0.27; p = 0187), the periocular (r = 0.24; p = 0.232) and the left and right perioral (r = 0.29; p = 0.122), (r = 0.32; p = 0.085) muscles. Conclusions: Although FSHD patients exhibited a decrease in muscular activity related to the forehead, perioral, and periocular muscles the genotype–phenotype associations confirmed a weak to moderate non-significant correlation between repeat size and the severity of muscle weakness. Orofacial muscle weakening and its association with a D4Z4 contraction alone may not have the significance to serve as a prognostic biomarker, due to the weak to moderate association. Further studies with larger sample sizes are needed to determine the degree of genetic involvement in the facial growth in FSHD patients.

Clinical Evaluation for Space Maintainer after Unilateral Loss of Primary First Molar in the Early Mixed Dentition Stage

Background and Objectives: Controversy exists regarding the need for a space maintainer after early unilateral loss of a primary first molar. This study aimed to assess the need for a space maintainer after unilateral loss of a primary first molar in the early mixed dentition period. Materials and Methods. In this cross-sectional study, fifty children between 6 and 8 years who had lost a primary first molar unilaterally later than 6 months ago were randomly selected. Midline deviation, molar and canine relationships at both sides, facial growth pattern, and the amount of space loss were all assessed. Data were analyzed using SPSS version 25 via the one-sample t-test, paired t-test, and linear regression (alpha = 0.05). Results. The mean amount of space loss was 1.36 ± 0.78 mm (1.32 mm in the maxilla and 1.40 mm in the mandible). Time since tooth extraction and facial pattern had significant correlations with space loss P < 0.05 . Conclusion. In this particular age group, it is imperative to precisely assess the related factors such as the facial pattern and time since tooth extraction to decide about the placement of a space maintainer for a prematurely lost primary first molar.

Custom-Made Alloplastic Prosthetic Implant to Treat Temporomandibular Joint Ankylosis in Pediatric Patients: A Case Study

Temporomandibular Joint (TMJ) ankylosis represents a fairly common condition which surgeons need to face. According to Rowe, it can be defined as a restricted functional capacity of the jaw with limited movements owing to bony or fibrous adhesions between the condyle and either glenoid fossa, disc or eminence (or both). It can become a disease which impacts patients’ daily life, who suffer from limited mandibular excursion with reduced intercisal opening, anterior open bite, inability to swallow, sleep disorders, and speech problems. In children this may also result in abnormal mandibular and facial growth. In this paper, we deal with the case of a child with an important momolateral ankylosis, previously treated surgically with Costochondral Grafting arthroplasty without success and subsequently treated with a custom-made prosthesis.

Evaluation of Skeletal and Dental Maturity in Relation to Vertical Facial Types and the Sex of Growing Children

The purpose of this retrospective study was to evaluate the skeletal and dental maturity according to the vertical facial type and sex in Korean children in the developmental stage. In total, 184 participants aged 8 - 14 years were selected and divided into three groups based on the mandibular plane angle. For the comparison between the sexes, the three groups were each divided into male and female subgroups. The skeletal and dental maturity were assessed using lateral cephalograms, hand-wrist radiographs and panoramic radiographs. The vertical growth group showed significantly greater cervical vertebral and hand-wrist maturity than that in the horizontal growth group. Dental maturity was the highest in the vertical growth group. Girls showed greater skeletal maturity than boys, and no distinct difference was observed between the dental maturity of the sexes. Analysis of the vertical facial type in children can provide ancillary indicators that may help determine the optimal timing for orthodontic treatment initiation. Earlier initiation of orthodontic treatment may be considered for patients with vertical facial growth patterns.

Management of Bilateral Temporomandibular Joint Ankylosis and Class 2 Malocclusion in a Patient With Nager Syndrome

Nager syndrome is a rare hereditary syndrome characterized by severe mandibulofacial and pre-axial upper limb anomalies. Patients with Nager syndrome often exhibit syndromic Pierre-Robin sequence secondary to their hypoplastic mandible and require mandibular distraction osteogenesis to prevent dependence on a tracheostomy or gastric tube. This procedure, however, has been associated with temporomandibular joint (TMJ) ankylosis. TMJ ankylosis is a highly debilitating condition that dramatically impairs patients’ function and can result in facial asymmetry in affected children during periods of rapid facial growth. Surgical intervention is warranted in patients who fail physiotherapy; however, there is no gold standard treatment for surgically correcting TMJ ankylosis in patients with Nager syndrome. Herein, we detail the surgical management of TMJ ankylosis and class 2 malocclusion in a patient with Nager syndrome.

Andy’s Facial Growth Indicator

Facial growth indicator line was originally developed by Dr John RC Mew. Dr Mew discloses a facial growth indicator in his textbook, Bioblock Therapy published in Great Britain by Dr Mew. The indicator line—this is defined as the distance from the tip of the nose to the incisal edge of the lowest upper central incisor. Andy’s facial growth indicator is a modification of facial growth indicator, which was originally developed by Dr Mew.

Predictive Factors of Therapeutic Response According to Craniofacial Skeletal Biotype in Patients with Sleep Apnoea Syndrome using Mandibular Advancement Devices: A Pilot Study

Background: In the scientific literature, there is no consistency of results regarding the effectiveness of mandibular advancement devices (MADs) for sleep apnoea treatment. We have considered facial growth as an important predictor of treatment. In this study we analysed that how facial biotype can influence the therapeutic effect of MADs according to polysomnographic records in SAHS patients.Methods: The study enrolled 46 patients with mild to moderate SAHS diagnosed by a polysomnographic test. Using cephalometry, we classified all the patients according their facial biotype (mesofacial, brachyfacial or dolichofacial). Shapiro-Wilk test was used to choose the parametric or non-parametric tests. The quantitative variables were described with the arithmetic mean with its standard deviation or the median with its interquartile range. The hypothesis tests used were Pearson’s chi-squared test, paired sample Student's t test, the Wilcoxon test, one-way ANOVA, Kruskal-Wallis test and Mann-Whitney U test. A p < 0.05 was considered statistically significant.Results: The respiratory disturbance index (RDI) results were: brachyfacial patients had a reduction to 15 events/hour (p < 0.001), the mesofacial patients had a reduction to 14 events/hour (p < 0.001) and the dolichofacial patients did not show a significant reduction in the RDI. The oxygen desaturation index (ODI) results were as follows: brachyfacial patients had a reduction in ODI episodes to 45 episodes/hour (p = 0.001), mesofacial patients had a reduction to 18 episodes/hour (p = 0.001). The dolichofacial patients did not show a reduction in this index. As far as the number of arousals, in the brachyfacial group, the number of awakenings with MAD therapy was reduced to 23 events/hour (p = 0.003), while in the mesofacial group, it was reduced to 37 episodes/hour (p = 0.012). The same behaviour was observed in the dolichofacial group, did not have a reduction in the number of awakenings during sleep after MAD therapy.Conclusions: The facial biotype influences the effectiveness of MAD therapy and is considered a good predictive factor. Dolichofacial patients failed to obtain a significant result in the polysomnographic records using a MAD for sleep apnoea treatment.