Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. We report on a patient with MGS secondary to biallelic mutations in CDC45 detected on whole exome sequencing (WES). Patients with MGS caused by mutations in CDC45 display a distinct phenotype characterized by craniosynostosis and anorectal malformation. Our patient had craniosynostosis, anorectal malformation and short stature, but did not have the microtia or patella hypoplasia. Our report also highlights the value of WES in aiding diagnosis of patients with rare genetic diseases. In conclusion, our case report and review of the literature illustrates the unique features of CDC45-related MGS as well as the benefits of WES in reducing the diagnostic odyssey for patients with rare genetic disorders.

Influence of Bimaxillary Surgery on Pharyngeal Airway in Class III Deformities and Effect on Sleep Apnea: A STOP-BANG Questionnaire and Cone-Beam Computed Tomography Study.

PURPOSE: To evaluate pharyngeal airway space (PAS; nasopharyngeal, oropharyngeal, and total airway) volume and the correlation of an obstructive sleep apnea (OSA) and hypopnea syndrome screening questionnaire (STOP-BANG) with various mandibular setbacks during bimaxillary surgery and compare these findings with an age- and gender-matched skeletal Class I control group. PATIENTS AND METHODS: This retrospective cohort study was composed of patients with skeletal Class III discrepancy who underwent bimaxillary jaw surgery and were assessed with STOP-BANG score, cephalometry, and cone-beam computed tomography (of the PAS). The predictor variable was bimaxillary jaw surgery and included 4-, 6-, and 8-mm setbacks. The primary outcome variables were PAS volume, body mass index, and STOP-BANG score evaluated at 1 week before surgery and after comprehensive orthodontic treatment (11.25 ± 1.95 months). Other variables were grouped into the following categories: demographic and cephalometric parameters. Statistical intragroup and intergroup differences were assessed by paired t and independent t tests (P < .05), respectively. RESULTS: The study sample was composed of 48 patients (18 to 25 yr old); group I received 4-mm setback (n = 16), group II received 6-mm setback (n = 16), and group III received 8-mm setback (n = 16) mandibular surgery, and all test groups received 4-mm maxillary advancement. The entire study group was compared with a skeletal Class I control group (n = 16). The total PAS volume after orthodontic treatment in groups I and II showed a significant decrease compared with the presurgical PAS (P < .001), but the decrease was not less than that in the control group (P > .05). In contrast, the total PAS volume in group III after orthodontic treatment (23,574 ± 1,394 mm3) was less than that in the control group (23,884 ± 1,543 mm3). CONCLUSION: After surgery, patients with Class III discrepancy exhibited a decrease in oropharynx volume; however, the STOP-BANG score showed no change in risk factors scores for OSA at 4- to 8-mm setback surgery of the mandible in bimaxillary jaw surgery.

Comparative Evaluation of the Pharyngeal Airway Space in Unilateral and Bilateral Cleft Lip and Palate Individuals With Noncleft Individuals: A Cone Beam Computed Tomography Study.

OBJECTIVE: To evaluate the pharyngeal airway space changes in complete unilateral cleft lip and palate (UCLP) and bilateral cleft lip and palate (BCLP) individuals, and compare with age and sex-matched noncleft (NC) control subjects. DESIGN: Retrospective study. SETTING: Cleft and Craniofacial Centre, KK Women's and Children's Hospital, Singapore. MATERIALS AND METHODS: Twenty UCLP (mean age: 13.4 ± 0.5 years), 18 BCLP (mean age: 13.5 ± 0.5 years) and 20 skeletal Class I subjects (mean age: 13.4 ± 0.6 years) were included in the study. Cone beam computed tomography scans were assessed for pharyngeal airway space (PAS) (oropharyngeal, nasopharyngeal, total airway space volume), and compared with PAS of age and sex-matched skeletal Class I NC individuals. RESULTS: Pharyngeal airway space showed statistically significant differences in the UCLP, BCLP, and NC control subjects. Oropharyngeal (9338 ± 1108 mm3, P < .05), nasopharyngeal (2911 ± 401 mm3, P < .05), and total airway space (12 250 ± 1185 mm3, P < .05) volumes of BCLP individuals showed significant reduction in comparison to UCLP and NC. There were no gender differences of PAS in any of the groups tested (P > .05). CONCLUSION: The pharyngeal airway space was significantly reduced in the BCLP group than were those in UCLP and control groups. This reduced PAS should be taken into account when planning treatment for these individuals.

Orthodontic-orthognathic interventions in orthognathic surgical cases: "Paper surgery" and "model surgery" concepts in surgical orthodontics.

Thorough planning and execution is the key for successful treatment of dentofacial deformity involving surgical orthodontics. Presurgical planning (paper surgery and model surgery) are the most essential prerequisites of orthognathic surgery, and orthodontist is the one who carries out this procedure by evaluating diagnostic aids such as crucial clinical findings and radiographic assessments. However, literature pertaining to step-by-step orthognathic surgical guidelines is limited. Hence, this article makes an attempt to provide an insight and nuances involved in the planning and execution. The diagnostic information revealed from clinical findings and radiographic assessments is integrated in the "paper surgery" to establish "surgical-plan." Furthermore, the "paper surgery" is emulated in "model surgery" such that surgical bite-wafers are created, which aid surgeon to preview the final outcome and make surgical movements that are deemed essential for the desired skeletal and dental outcomes. Skeletal complexities are corrected by performing "paper surgery" and an occlusion is set up during "model surgery" for the fabrication of surgical bite-wafers. Further, orthodontics is carried out for the proper settling and finishing of occlusion. Article describes the nuances involved in the treatment of Class III skeletal deformity individuals treated with orthognathic surgical approach and illustrates orthodontic-orthognathic step-by-step procedures from "treatment planning" to "execution" for successful management of aforementioned dentofacial deformity.

Repair of inferior sternal cleft using bilateral sternal bar turnover flaps in a patient with pentalogy of cantrell.

We report a case of sternal reconstruction using bilateral sternal bar turnover flaps in a 4-year-old boy with an inferior sternal cleft, as part of Cantrell's pentad. When the patient was 10 months old, he underwent sternal reconstruction using a resorbable poly-L-lactic-polyglycolic acid plate in the first stage when there was insufficient autogenous tissue to provide a reliable reconstruction. Bilateral sternal bar turnover was performed in the second stage at 4 years of age. This operative technique is described in this report. This novel technique provides a robust, dynamic, and reliable reconstruction for inferior sternal defects.

High Le Fort I and bilateral split sagittal osteotomy in Crouzon syndrome.

Crouzon syndrome is a rare, autosomal dominant disease from a fibroblast growth factor receptor 2 gene mutation, characterized by premature craniosynostosis, hypertelorism, orbital proptosis, psittichorina, hypoplastic maxilla, and mandibular prognathism. We present an adult 32-year-old Crouzon syndrome patient who underwent an elective High Le Fort I and bilateral split sagittal osteotomy for midface advancement with a background of jaw malocclusion and obstructive respiratory symptoms. The operation features a potential dynamic movement of the secured airway in the surgical field and close proximity to exposed ocular structures. Permissive hypotensive anesthesia was employed to improve the surgical field and reduce intraoperative blood loss and dose of long-acting opioids. He was extubated at the end of an uneventful surgery and was monitored in the high dependency overnight before he was discharged to the general ward. Perioperative issues include potential difficult airway management; ocular, auditory, and neurological injury prevention; surgery-specific anesthetic technique; and postoperative analgesia. Understanding the multisystemic issues facilitates the dynamic anesthetic management during surgery. Good communication among the multidisciplinary team is essential to ensure a successful operation and uneventful recovery.

Repair of ectopia cordis using a resorbable poly-L-lactic-polyglycolic acid plate in a patient with pentalogy of Cantrell.

We present a case of a 10-month-old male infant with thoracoabdominal ectopia cordis, as part of Cantrell pentad, repaired using a poly-L-lactic-polyglycolic acid plate, a resorbable plating system widely used in craniomaxillofacial reconstruction. This is the first reported case of sternal reconstruction using a poly-L-lactic-polyglycolic acid plate. The repair was successfully carried out without cardiopulmonary compromise and good aesthetic outcome was achieved.

Platelet-rich plasma has no effect on increasing free fat graft survival in the nude mouse.

BACKGROUND: Free fat grafts have an unpredictable survival rate, which may be dependent on host bed vascularity. Therefore, the authors hypothesized that the presence of growth factors in platelet-rich plasma (PRP), may enhance free fat graft survival. METHODS: Free fat grafts and autologous PRP were harvested from a healthy female and processed using the Coleman technique and the Medtronic Magellan system respectively. The experiment comprised two groups of 12 nude mice each with injection of free fat grafts into the scalp. The experimental group comprised the combination of 0.8 ml of free fat graft and 0.2 ml of PRP. The control group comprised the combination of 0.8 ml of free fat graft and 0.2 ml of normal saline. The mice were euthanized after 16 weeks and the fat grafts explanted and measured for weight and volume. Histology was performed with Oil Red O stain. Statistical analysis of the weight and volume in between groups was performed using the independent samples T-test (SPSS v11). The Mann-Whitney test was used to compare the ranking of six histological parameters between the two groups. RESULTS: The mean weight and volume for the experimental arm were 0.503 g and 0.545 ml respectively. The mean weight and volume for the control arm were 0.500 g and 0.541 ml respectively. The weight, volume and histological parameters between the two groups were not statistically significant. A mouse from each group died of unknown causes. CONCLUSION: PRP did not enhance free fat graft survival in the nude mouse.

Use of tissue sealants in face-lifts: a metaanalysis.

BACKGROUND: This review sought to determine the efficacy of tissue sealants such as fibrin tissue adhesives and platelet-rich plasma in reducing postoperative drainage, ecchymosis, and edema after face-lift surgery. METHODS: The electronic databases MEDLINE (1966-May 2007) and EMBASE (1974-May 2007) and the Cochrane Central Register of Controlled Trials (CENTRAL) were searched for human studies, randomized controlled trials, controlled clinical trials, metaanalyses, and reviews of randomized controlled trials using the key words "fibrin tissue adhesive," "tissue sealant," "platelet-rich plasma," "face-lift," "rhytidoplasty," "rhytidectomy," and "facial plastic surgery." The search yielded 10 articles, only 3 of which met our inclusion criteria. The three studies were within-patient comparisons (patients acted as their own controls). RESULTS: Although not statistically significant, the pooled results showed a strong trend toward reduction in postoperative drainage at 24 h and ecchymosis with the use of tissue sealants compared with the control arm of the study. No difference in outcomes was observed between the tissue sealant and control arms of the study in terms of postoperative edema measurement. CONCLUSION: There was no statistically significant benefit from the use of tissue sealants in face-lift surgery. However, tissue sealants may be useful for patients at a high risk for hematoma and ecchymosis formation.