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.
Objective: Surgically assisted maxillary protraction is an alternative protocol in severe Class III cases or after the adolescent growth spurt involving increased maxillary advancement. Correction of the maxillary deficiency has been suggested to improve pharyngeal airway dimensions. Therefore, this retrospective study aimed to analyze the airway changes cephalometrically following surgically assisted maxillary protraction with skeletal anchorage and Class III elastics. Methods: The study population consisted of 15 Class III patients treated with surgically assisted maxillary protraction combined with skeletal anchorage and Class III elastics (mean age: 12.9 ± 1.2 years). Growth changes were initially assessed for a mean of 5.5 ± 1.6 months prior to treatment. Airway and skeletal changes in the control (T0), pre-protraction (T1), post-protraction (T2), and follow-up (T3) periods were monitored and compared using lateral cephalometric radiographs. Statistical significance was set at p < 0.05. Results: The skeletal or airway parameters showed no statistically significant changes during the control period. Sella to nasion angle, N perpendicular to A, Point A to Point B angle, and Frankfort plane to mandibular plane angle increased significantly during the maxillary protraction period (p < 0.05), but no significant changes were observed in airway parameters (p > 0.05). No statistically significant changes were observed in the airway parameters in the follow-up period either. However, Sella to Gonion distance increased significantly (p < 0.05) during the follow-up period. Conclusions: No significant changes in pharyngeal airway parameters were found during the control, maxillary protraction, and follow-up periods. Moreover, the significant increases in the skeletal parameters during maxillary protraction were maintained in the long-term.
To investigate the distribution of dental anomalies between non-syndromic orofacial cleft patients and their association with the cleft type and gender. Retrospective cross-sectional study involving examination of intraoral dental records and radiographs. 300 non-syndromic orofacial cleft patients included (161 males and 139 females, mean age: 10.23 ± 2.3 years). Variables analyzed: tooth agenesis, microdontia, and supernumerary teeth. Data analysis: Chi-square and Fisher's exact tests to investigate the correlation between dental anomalies, cleft type, and gender. Agenesis occurred in 66% of the subjects, supernumerary teeth in 19.6%, and microdontia in 18.3%. In females with unilateral left cleft lip and palate (CLP), agenesis was significantly higher compared to males. Both genders presented significant agenesis of maxillary lateral incisors and right central incisor. Significant agenesis of central incisor, canine and second premolar on the upper left side and lower second premolars were observed only in males, with significant microdontia for maxillary lateral incisors and left central incisor. Significant agenesis of maxillary first premolars was seen only in females. Agenesis in maxillary quadrants was significant for patients with unilateral right and left CLP, and bilateral CLP. In mandibular quadrants, agenesis was substantially higher for patients with isolated CP. Results suggest that tooth agenesis and microdontia might not be directly associated with the cleft area's anatomical irregularity but are affected by gender and other genetic factors that regulate the development of the anomaly and the orofacial clefting mutually.
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