Neurofibromatosis type 1 (NF1) is a dominantly inherited tumor predisposition syndrome that targets the peripheral nervous system. It is caused by mutations of the NF1 gene which serve as a negative regulator of the cellular Ras/MAPK (mitogen-activated protein kinases) signaling pathway. Owing to the complexity in some parts of clinical diagnoses and the need for better understanding of its molecular relationships, a genetic characterization of this disorder will be helpful in the clinical setting. In this study, we present a customized targeted gene panel of NF1/KRAS/BRAF/p53 and SPRED1 genes combined with Multiple Ligation-Dependent Probe Amplification analysis for the NF1 mutation screening in a cohort of patients clinically suspected as NF1. In this study, we identified 73 NF1 mutations and two BRAF novel variants from 100 NF1 patients who were suspected as having NF1. These genetic alterations are heterogeneous and distribute in a complicated way without clustering in either cysteine–serine-rich domain or within the GAP-related domain. We also detected fifteen multi-exon deletions within the NF1 gene by MLPA Analysis. Our results suggested that a genetic screening using a NGS panel with high coverage of Ras–signaling components combined with Multiple Ligation-Dependent Probe Amplification analysis will enable differential diagnosis of patients with overlapping clinical features.

Secondary alveolar bone grafting (SABG) is associated with donor site morbidities. We aimed to compare the outcomes of SABG and extensive gingivoperiosteoplasty (EGPP) at the mixed dentition stage. This single-blinded, randomized, prospective trial enrolled 50 consecutive patients with unilateral complete cleft lip and palate who had residual alveolar bone cleft, of which 44 (19 SABG, 25 EGPP) completed the study. Bone volumes before surgery, 6 months postoperatively, and 1-year postoperatively were compared using computed tomography. The Bergland scale score was recorded at 6 months postoperatively. Both groups had the same preoperative alveolar cleft volume. On the Bergland scale, 21, 3, and 1 patient in the EGPP group and 16, 2, and 1 patient in the SABG group were classified as types I, II, and IV, respectively, which did not show significant difference. With perioperative orthodontic treatment, the 1-year residual bone defect volume in both groups did not show significant difference (SABG 0.12 cm³ vs. EGPP at 0.14 cm³, p > 0.05). The study was not able to reveal much difference between SABG and EGPP combined with perioperative orthodontic treatment.

Background: The objectives of this study were to investigate the treatment effect, morphology, and volumetric outcomes of monobloc frontofacial or Le Fort III distraction osteogenesis in syndromic craniosynostosis by 3-dimensional evaluation. Materials and Methods: Nine consecutive patients underwent monobloc frontofacial or Le Fort III distraction during 2003 to 2012 were included and evaluated. The patient's evaluation is a minimum of a 4-year follow-up. Pretreatment, post-treatment advancement, and relapse were quantified. The changes in intracranial volume, upper airway volume, globe protrusion, advancement at bilateral malar eminence, and central face were calculated from computerized tomography before and after treatment. Results: After distraction, the intracranial volume was increased by 16.4% in average, and the upper airway volume increased by 64.1%. Orbital protrusion improved by 9.9 mm in the left eye and 10.5 mm in the right eye in comparison to the preoperative status. Bilateral malar eminences advancement was greater than the dorsum advancement by 7.1 mm. Conclusion: The external distraction osteogenesis device caused significant technical difficulties with advancement of the midface in growing bones. The central midface did not advance as hoped for. This finding may suggest a need for modification in the distraction device in order to improve the central facial distraction vector.

Background and Aim: It is well known that palatoplasty can often cause disturbances in maxillary growth. The use of a single-layer vomer flap for the early closure of the hard palate is controversy among surgeons. The aim of this study is to compare the 10-year facial growth of 2 surgical protocols in the treatment of patients with unilateral cleft lip and palate performed by a single surgeon. Methods: This retrospective analysis includes 43 nonsyndromic patients with complete unilateral cleft lip with or without a vomer flap for the closure of the hard palate during cleft-lip repair. Lateral cephalograms were obtained at the age of 5, 7, and 9 years old, and angular measurements were used to assess patient's facial growth. The Mann-Whitney U test was used to compare 2 treatment protocol groups. Result: A total of 23 patients in protocol 1 group (16 male, 7 female) and 20 patients in protocol 2 group (10 male, 10 female) were included. At the age of 5 and 7, there was no significant difference of maxillary and mandibular growth in both groups. At the age of 9 years, all the angular measurement revealed statistical significance with SNA (P = 0.02), SNB (P = 0.05), ANB (P < 0.01), and SNPg (P = 0.05). Conclusions: The present study has shown that early anterior palate repair for 3-month-old cleft patients have better maxillary growth and less mandibular prognathism.