Association between IRF6 and 8q24 polymorphisms and nonsyndromic cleft lip with or without cleft palate: Systematic review and meta-analysis.

BACKGROUND: We conducted a systematic review and meta-analysis of interferon regulatory factor 6 and 8q24 polymorphisms with nonsyndromic cleft lip with/without cleft palate (NSCL/P). METHODS: Data extraction was independently performed by two reviewers. Genotypic effects of four polymorphisms from 31 studies were pooled separately by ethnicity using a mixed-effect logit model with accounting for heterogeneity. RESULTS: For rs2235371, AA and GA carried, respectively, 51% (95% confidence interval [CI], 37%-61%) and 42% (95% CI, 32%-50%) lower risks of NSCL/P than GG genotypes in Asians, but these genotypes were not significant in Caucasians. For rs2013162, only AA was significant, that is, carried 0.65 (95% CI, 0.52-0.82) times lower odds than CC in Caucasians but not for Asians. For rs642961, AA and GA genotypes, respectively, carried 2.47 (95% CI, 1.41-4.35) and 1.40 (95% CI, 1.12-1.75) times higher odds in Asian, and 2.03 (95% CI, 1.52-2.71) and 1.58 (95% CI, 1.37-1.82) times higher odds in Caucasians compare with GG genotypes. For rs987525, AA and CA genotypes carried 2.27 (95% CI, 1.43-3.60) and 1.34 (95% CI, 1.02-1.77) times higher odds in Asian, and 5.25 (95% CI, 3.98-6.91) and 2.13 (95% CI-1.82, 2.49) times higher odds in Caucasians, and 1.42 (95% CI, 1.10-1.82) and 1.28 (95% CI, 1.09-1.50) times higher odds in mixed ethnicities compared with CC genotypes. These variant effects remained significant based on applying Bonferroni corrected-thresholds, except in the mixed ethnicity. CONCLUSION: We show robust variant effects in NSCL/P. Considering them with other genes and risk factors might be useful to improve prediction of NSCL/P occurrence. Birth Defects Research (Part A) 106:773-788, 2016. © 2016 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc.

Orthognathic surgery considerations for patients with undiagnosed type I osteogenesis imperfecta.

PURPOSE: This study reports the senior author's experience of orthognathic surgery in patients with prognathism and undiagnosed type I osteogenesis imperfecta and includes a review of the literature. PATIENTS AND METHODS: Two patients with undiagnosed type I osteogenesis imperfecta underwent orthognathic surgery for correction of prognathism at Chang Gung Craniofacial Center, Taipei, Taiwan. The initial surgical plan was to perform 2-jaw orthognathic surgery in both patients. RESULTS: The bone quality was found to be fragile during the operation, and the original plan was changed intraoperatively to 1-jaw mandibular surgery. Both operations were performed without complications, and wound healing progressed normally. Both the final facial profile and occlusal outcome were satisfactory in 1 patient, with mild relapse occurring in the second patient. CONCLUSIONS: For patients with type I osteogenesis imperfecta, the orthognathic surgery plan should be simplified as much as possible. Prolonged intermaxillary fixation is recommended to facilitate bone union. Complications could possibly be avoided.

Comparison of outcomes of velopharyngeal surgery between the inferiorly and superiorly based pharyngeal flaps.

BACKGROUND: Pharyngeal flaps have been widely used for the correction of velopharyngeal incompetence. The aim of this study was to compare the outcomes of velopharyngeal surgery between those who received the superiorly and inferiorly based pharyngeal flaps. METHODS: A retrospective review of medical records of patients with cleft palates who received pharyngeal flap surgery for the correction of velopharyngeal incompetence at one craniofacial center was performed. The superiorly based flaps were elevated and inset using the fish-mouth method. The inferiorly based flaps were sutured to the soft palate where a distally based mucosa flap was turned over to cover the raw surface of the flap pedicle. The velopharyngeal functions were categorized as adequate, marginal, or inadequate. Complications associated with the operation were documented. Statistical comparisons between the two groups were made. RESULTS: There were 65 patients in each group. No statistically significant differences were found for sex distribution and age at operation. The outcomes of the velopharyngeal surgery were better in the group of patients who received the inferiorly based pharyngeal flaps (p = 0.030). The complications were not significantly different between the two groups, and were all relatively mild. CONCLUSION: The inferiorly based pharyngeal flap was more effective than the superiorly based pharyngeal flap for the correction of velopharyngeal incompetence. A probable explanation may be the fibrotic changes and scar contracture occurring in the pedicle of the superiorly based pharyngeal flap that may have impaired the velopharyngeal closure.