Search

Variants in genes encoding core components of the spliceosomes are associated with craniofacial syndromes, collectively called craniofacial spliceosomopathies. SNRPE encodes a core component of pre‐mRNA processing U‐rich small nuclear ribonuclear proteins (UsnRNPs). Heterozygous variants in SNRPE have been reported in six families with isolated hypotrichosis simplex in addition to one case of isolated non syndromic congenital microcephaly. Here, we report a patient with a novel blended phenotype of microcephaly and congenital atrichia with multiple congenital anomalies due to a de novo intronic SNRPE deletion, c.82‐28_82‐16del, which results in exon skipping. As discussed within, this phenotype, which we propose be named SNRPE‐related syndromic microcephaly and hypotrichosis, overlaps other craniofacial splicesosomopathies. [ABSTRACT FROM AUTHOR]

This study aims to compare outcomes of rib fracture patients with and without COVID-19 in Michigan. Data from the Michigan Trauma Quality Improvement Program (MTQIP) identified adults hospitalized from January 1, 2020, to October 31, 2022, with at least one rib fracture and a completed COVID-19 test on admission. Patients were propensity score matched 1:1 using 20 variables. The primary outcome was hospital length of stay (LOS). Secondary outcomes were mortality, ventilator days, intensive care unit (ICU) LOS, pneumonia, and ventilator-assisted pneumonia (VAP). 13,305 total patients were identified. 232 patients matched into both the COVID+ and COVID- groups. COVID was associated with increased LOS (7 days vs. 5 days, P < 0.001). There were no significant differences between the two groups when evaluating secondary outcomes. Our study indicates that although COVID-19 infection is associated with increased LOS, COVID may not contribute to additional morbidity or mortality in traumatic rib fracture patients., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Objectives: Nasoalveolar moulding (NAM) has resulted in profound outcomes in the treatment of bilateral cleft lip and palate patients, including non-surgical columellar lengthening and nasal moulding. We examine an innovative alternative that is less invasive, yet provides similar results. In this study, we describe a novel approach using the Customized Nasal Clip Protocol (CNCP™) and compare the treatment outcomes of a small cohort of infants with bilateral cleft lip ± palate with published results of the Grayson nasoalveolar moulding protocol., Materials and Methods: A cohort of six bilateral-cleft-affected patients was evaluated for this study. Standardized frontal and worm's eye view photographs were obtained, and clinical measurements were utilized to garner columellar length measurements and nostril height comparisons. The initial and post-surgical results were statistically compared with a student's t-test (p < .05). Inclusion and exclusion criteria were applied to the cohort, which will be described., Results: The resulting columellar length and nostril height increases of the CNCP™ group were comparable to a published cohort of subjects that have undergone nasoalveolar moulding. The nasal changes were found to be significant with a p-value <.01. The CNCP™ cohort also had fewer clinic visits, no complications that led to complete pauses of active treatment, and the benefit of receiving comprehensive treatment that was initiated at their first clinical presentation, in comparison to traditional NAM patients., Conclusion: The increase of columellar length and nostril height that resulted from utilizing the CNCP™ in bilateral cleft patients met the treatment goals of presurgical infant orthopaedics, with results on par with published results of NAM. These results, paired with the reduction in patient, family, and provider burden, further support the continued use and development of the CNCP™ for appropriate patient populations., (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Benign salivary gland tumors are rarely found in children and adolescents compared with adults. Pleomorphic adenomas (PAs), the most common benign salivary gland tumor, account for only 1% of all head and neck lesions and fewer than 5% of all salivary gland tumors in individuals under the age of 16 years. The data on palatal PA in the first 2 decades of life is confined to published case reports and case series. To date, there has never been a report of palatal PA in a patient with cleft lip and palate. Here we describe an adolescent female with bilateral cleft lip and palate with PA of the hard and soft palate who underwent wide local excision and reconstruction with a buccal fat pad and buccal myo-mucosal flap.

Introduction: Patients with traumatic brain injury (TBI) are at risk for seizures and other abnormalities that can have permanent adverse effects on the brain. We aimed to report the incidence of seizures and continuous EEG (cEEG) abnormalities after TBI and identify any risk factors associated with the development of these abnormalities. Materials and Methods: This retrospective study identified 245 adult patients with mild to severe TBI who had a cEEG performed within one week of admission to a Midwest Level 1 Trauma Center between July 2014 and July 2019. Trauma registry and electronic medical record (EPIC) data were extracted. Results: Twelve percent of patients with TBI developed seizures and an additional 23% demonstrated electrographic patterns that are correlated with risk for seizures (such as lateralized periodic patterns and sporadic epileptiform discharges). Fifty three percent of seizures would have been missed unless a cEEG was performed. Age, history of epilepsy or prior TBI, hypertension, bleeding disorder, and dementia were associated with an increased risk of developing seizures or higher risk patterns. Conclusions: Thirty-five percent of patients who presented with TBI were noted to have seizures or electrographic patterns associated with a higher risk of seizures. The incidence of cEEG abnormalities in this study is higher than previously reported and these patients are at risk for permanent neurological injury. We recommend the routine use of cEEG for all critically ill patients with TBI as over half of the seizures would have been missed if cEEG was not employed.

Introduction: Falls are the second leading cause of trauma-related deaths worldwide. Identifying fall risk patients and initiating interventions reduces injuries and mortality, particularly in the elderly. The primary aim of this retrospective study was to identify missed opportunities for fall risk identification and intervention for geriatric trauma patients., Patients and Methods: In this retrospective observational cohort study, the trauma registry was queried to identify geriatric patients admitted for a fall over 36 months. The electronic medical record (EMR) was reviewed to evaluate patients' fall risk in the 12 months prior to the index fall admission. The EMR was also queried for repeat falls within 12 months after discharge, and to determine if fall prevention education was provided at discharge., Results: 597 patients met inclusion criteria; 68.3% were female. 64.7% were at risk for falling in the year before admission. 2% had documented fall prevention education at discharge. 32% of patients fell again within a year of discharge and 19.4% were readmitted for a repeat fall. Patients at high risk for falls (on the Hester-Davis scale) were significantly more likely to be readmitted (p = 0.005) and expire within six months (p = 0.033) than moderate risk patients. Mortality at 12 months post-admission for all patients was 19.4%., Conclusion: This large study demonstrated that geriatric trauma patients admitted for a fall were already at risk for falling in the 12 months prior to admission. This is a novel finding that presents a substantial prevention opportunity for healthcare systems. Education and implementation of proven techniques to prevent falls as soon as at-risk patients are identified has the potential to change the course for a patient who may not only fall, but also fall again. This proactive approach could significantly impact the fall epidemic in our elderly population., Competing Interests: Declaration of Competing Interest None. This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

Background: There is no agreed upon triage criteria to identify traumatic rib fracture patients at the highest risk for decline. We developed a comprehensive triage tool that assigns patients to high, moderate, and low risk categories. The primary outcome of our study was to evaluate unplanned intensive care unit (ICU) admissions., Methods: We conducted a single-center, retrospective review at our level 1 trauma center comparing two cohorts of patients (≥18 years of age) six months before and after implementation of our risk-associated rib fracture protocol., Results: After implementation of the risk-associated rib fracture protocol, the unplanned ICU admission rate decreased from 6.60% (PRE) to 2.60% (POST) (p = 0.014)., Conclusions: Implementation of our rib fracture protocol demonstrates that a comprehensive triage tool with a cascading risk associated treatment plan reduces in-hospital clinical decline of patients with traumatic rib fractures, as measured by unplanned ICU admissions., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Purpose: This study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program., Methods: Extensive analyses of 960 families with suspected genetic disorders included short-read exome sequencing and short-read genome sequencing (srGS); PacBio HiFi long-read genome sequencing (HiFi-GS); variant calling for single nucleotide variants (SNV), structural variant (SV), and repeat variants; and machine-learning variant prioritization. Structured phenotypes, prioritized variants, and pedigrees were stored in PhenoTips database, with data sharing through controlled access the database of Genotypes and Phenotypes., Results: Diagnostic rates ranged from 11% in patients with prior negative genetic testing to 34.5% in naive patients. Incorporating SVs from genome sequencing added up to 13% of new diagnoses in previously unsolved cases. HiFi-GS yielded increased discovery rate with >4-fold more rare coding SVs compared with srGS. Variants and genes of unknown significance remain the most common finding (58% of nondiagnostic cases)., Conclusion: Computational prioritization is efficient for diagnostic SNVs. Thorough identification of non-SNVs remains challenging and is partly mitigated using HiFi-GS sequencing. Importantly, community research is supported by sharing real-time data to accelerate gene validation and by providing HiFi variant (SNV/SV) resources from >1000 human alleles to facilitate implementation of new sequencing platforms for rare disease diagnoses., Competing Interests: Conflict of Interest P. Baybayan, S. Chakraborty, J. Korlach, C. Lambert, W.J. Rowell, and A.M. Wenger are employees and shareholders of Pacific Biosciences. P. Buczkowicz and O. Buske are employees of PhenoTips. N. Miller became an employee of Bionano Genomics after contribution to the work described in this manuscript. All other authors declare no conflicts of interest., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Sarcopenia is associated with increased morbidity and mortality in the trauma patient. The primary objective of this study was to determine the relationship of psoas cross sectional area with hospital mortality in patients with rib fractures over the age of 55 years., Materials and Methods: We retrospectively reviewed 1223 patients presenting to a Level 1 Trauma Center between 1/1/2002 and 1/31/2019. Psoas cross sectional area was measured using a polygonal tracing tool. Patients were stratified into four quartiles based on sex-specific values., Results: There was increased in-hospital mortality for patients with a lower psoas cross sectional area (10 %, 8%, 6%, and 4%, Q1-Q4 respectively; P=0.021). The logistic regression model determined for every increase in psoas cross sectional area by 1 cm 2 the odds of in-hospital mortality decreased by 4%., Conclusions: In-hospital mortality is multifactorial; however, psoas cross sectional area may provide a clue in predicting adverse outcomes after traumatic rib fractures., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Granular cell tumors (GCTs) are extremely rare soft tissue tumors, with only 2% of tumors being malignant. Malignant GCTs are more often seen in women between the ages 40 and 60. There has been no case reported of a malignant GCT in a pediatric patient. We present a case of a 14-year-old male who presented with a large mass in his left lower extremity. After being biopsied, the mass was diagnosed as a malignant GCT. The tumor was completely excised with wide margins and close follow-up with the patient continued., Competing Interests: The authors declare no conflict of interest., (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Del Nido cardioplegia (DC) offers prolonged single-dose myocardial protection in pediatric cardiac surgery. We set out to evaluate the efficacy of DC in adult patients undergoing isolated coronary artery bypass grafting (CABG)., Methods: From January 2012 to October 2017, 851 consecutive isolated CABG surgeries were performed by 2 study surgeons at our center with blood cardioplegia (BC, n = 350), used from January 2012 to April 2014, and DC (n = 501), used from May 2014 to October 2017. Propensity matching was used to yield 325 well-matched pairs. Clinical data were extracted from our local Society of Thoracic Surgeons database and mortality data from the Michigan State Social Security Death Index., Results: Single-dose administration was used in 83% (417/501) of patients receiving DC. In propensity-matched groups, postoperative median troponin T levels (0.28 [0.16-0.59] ng/mL vs 0.46 [0.27-0.81] ng/mL; P < .01) were lower for patients receiving DC, and no difference in ejection fraction on postoperative echocardiography was observed (54 ± 12% and 53 ± 13% for BC and DC, respectively; P = .36). Perioperative outcomes were similar except for greater rate of atrial fibrillation (33% vs 23%; P = .01) in the DC group. Subgroup analyses revealed equivalent myocardial protection and clinical outcomes in patients with age ≥75 years, left ventricular ejection fraction ≤35%, left main disease, or Society of Thoracic Surgeons score ≥2.5%. Four-year survival did not differ between patients undergoing BC or DC., Conclusions: The current study revealed noninferior myocardial protection and clinical outcomes with DC versus BC in both routine and greater-risk patients undergoing isolated CABG. DC demonstrated the feasibility of single-dose administration for isolated CABG surgery. Larger randomized studies are needed to further explore the safety and efficacy of DC in adult cardiac surgery with longer crossclamp times., (Copyright © 2019 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.)

Background: Temporomandibular joint (TMJ) arthritis and involvement is commonly seen in Juvenile Idiopathic Arthritis (JIA). Therapy includes conservative measures, but also includes intraarticular corticosteroid injections (IASI) and systemic immunosuppressive therapy. Despite aggressive medical therapy, some patients develop arthritic changes and frank TMJ ankylosis that can result in persistent pain and limitation in range of motion (ROM). A surgical option is prosthetic TMJ replacement with concurrent correction of dentofacial deformities, which can be performed simultaneously. The objective of this study was to evaluate the outcomes of prosthetic TMJ replacement in a cohort of adolescent females with JIA and severe TMJ involvement., Methods: This is a retrospective case series that took place at one tertiary care center. Patients with a diagnosis of JIA who also underwent alloplastic TMJ replacement were identified through electronic medical record system (EMR) and reviewed. Chart review included analysis of all documents in the EMR, including demographic data, JIA history, surgical complications, ROM of TMJ measured by maximal incisal opening in millimeters (mm) and TMJ pain scores (4-point Likert scale: none, mild, moderate, severe) obtained pre- and postoperatively., Results: Five female patients, ages 15-17 year when TMJ replacement was performed, had nine total joints replaced with a post-operative follow-up period of 12-30 months. All patients had polyarticular, seronegative JIA and were treated with IASI and multiple immunosuppressive therapies without resolution of TMJ symptoms. One patient had bilateral TMJ ankylosis. Three of the five patients demonstrated significant dentofacial deformities, and all underwent simultaneous or staged orthognathic surgery. All patients had improvement in TMJ pain with most (80%) reporting no pain, and all had similar or improved ROM of their TMJ postoperatively. There was one delayed postoperative infection with Cutibacterium Acnes that presented 15 months after surgery and required removal and reimplantation of prosthesis., Conclusion: The sequelae of TMJ arthritis and involvement from JIA in the adolescent population can be difficult to treat. Current medical therapy can be successful, however, in select cases that develop chronic changes in the TMJ despite extensive medical therapy, early results show that prosthetic joint replacement maybe a reasonable surgical option. With prosthetic joint replacement pain levels were reduced and range of motion was maintained or improved for all patients.

Purpose: To report the early experience using a new internal trans-nasal Le Fort I distractor in patients with cleft lip and palate., Methods: Patients with cleft lip and palate and severe maxillary deficiency, who were treated with the trans-nasal Le Fort I distractor, were retrospectively reviewed. Cephalometric images were evaluated preoperatively and at least 6 months postoperatively. Speech outcomes were measured before and at least 6 months after surgery. Patient experience with the device was documented and complications were recorded., Results: Five male patients with bilateral cleft lip and palate (ages 11-19) underwent the maximum advancement allowed by the device (25 mm). Follow-up averaged 2 years. Average SNA changed from 75.5°preoperatively to 84.6°postoperatively. Average ANB angle changed from -2.8° to 7.4°, or a tendency to Class 2 overcorrection. There was an overall increase in upper anterior facial height by 7.5 mm. All patients achieved acceptable postoperative occlusions. Two patients with borderline velopharyngeal function preoperatively developed velopharyngeal insufficiency postoperatively that did not resolve 6 months postoperatively, necessitating further surgery. Families reported ease of turning with minimal discomfort reported by patients. All patients maintained normal mouth opening during and after the distraction phase. Two of the patients developed localized pin site infections after the distraction phase that were treated successfully with oral antibiotics., Conclusion: The trans-nasal Le Fort I distractor can be an effective device to advance the deficient maxilla and is well tolerated by patients.

Cantú syndrome (CS) is a rare autosomal dominant disorder caused by a heterozygous pathogenic variant in the ABCC9 or KCNJ8 gene. The disorder is characterized by congenital generalized hypertrichosis, coarse acromegaloid facial features (broad nasal bridge, epicanthal folds, wide mouth, macroglossia), skeletal abnormalities (calvarial thickening, metaphyseal flares, coxa valga, scoliosis), tortuous vasculature (meningeal arteriovenous malformations), and cardiac abnormalities (patent ductus arteriosus, pericardial effusion). Despite the constellation of craniofacial features, there are currently no documented cases of a patient with CS having orthognathic surgery. The purpose of this report is to highlight the multidisciplinary collaboration, including establishment of a genetic diagnosis, cardiac management, and orthodontic therapy, in performing successful orthognathic surgery in a patient with CS.

Objective: Craniofacial microsmia is the second most common congenital disorder with mostly unilateral defects of ear, temporomandibular joint, mandible, and muscles of facial expression and mastication. The objective of this study was to identify, if there were any, de novo germline or somatic variants in a patient with Occulo-Auriculo-Vertebral Spectrum (OAVS) using whole-exome sequencing., Settings and Sample Population: Trio/Family-based study of an OAVS proband., Materials and Methods: Children's Mercy Hospital Institutional Review Board approved this study and a request-to-rely was procured from the University of Missouri Kansas City IRB. Informed assent/consent was obtained for all family members prior to any research activities. The peripheral blood/affected side tissues from corrective surgery of the proband and peripheral blood samples from unaffected parents were collected. The isolated genomic DNA were enriched for exomes and sequenced on an Illlumina HiSeq 2500 instrument yielding paired-end 125 nucleotide reads (84X coverage). Gapped alignment to reference sequences (GRCh37.p5) was performed with BWA and the GATK and analysis completed using custom-developed software., Results: Analyses revealed that the proband carried a de novo germ line nonsense substitution (c.901C>T) in AMIGO2 gene, and missense substitutions in ZCCHC14 (c.1198C>T), and in SZT2 genes (c.2951C>T)., Conclusions: The nonsense substitution in AMIGO2 gene introduces a premature stop codon possibly rendering the gene non-functional via nonsense-mediated pathway decay-therefore considered a stronger candidate. Further functional studies are required to confirm whether loss-of-function variants in AMIGO2 can cause OAVS., (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Children with Prader-Willi Syndrome (PWS) may present with a malocclusion and have a high propensity of developing obstructive sleep apnea (OSA). Obstructive sleep apnea is associated with short- and long-term adverse effects that negatively impact children with PWS. A case of a 15-year-old male with PWS, OSA, and a debilitating malocclusion is presented who underwent a combination of Le Fort 1 osteotomy, genioplasty, and tongue reduction to successfully treat his OSA and malocclusion. In select cases, orthognathic correction and other surgical therapies should be considered in patients with PWS.

Macrocephaly diminishes quality of life for children whose head size inhibits independent mobility and appropriate interaction with caregivers. Cranial reduction is a method of addressing these issues, historically with a high morbidity due most commonly to bleeding and shunt complications. The authors present a 9-year-old girl with holoprosencephaly and severe macrocephaly from progressive hydrocephalus who underwent cranial reduction via reverse distraction osteogenesis, a method to slowly reduce the skull volume. The patient underwent circumferential occipital temporoparietal frontal craniotomy with placement of 4 cranial distractors, followed approximately 1 month later by removal of the distractors and cranioplasty with resorbable fixation devices. The patient demonstrated significant postoperative improvement in head control and interaction in school activities. This is the oldest patient with macrocephaly treated with reverse distraction in the literature to date. The slow contraction of the cranial vault with limited bony surgery at the time of initial reduction provides an additional safety margin, and should be considered in older children presenting with profound macrocephaly.

Laurin-Sandrow syndrome (LSS) is a rare autosomal disorder characterized by polysyndactyly of the hands and feet in a mirror fashion, absence of the radius and tibia with duplicated ulna and fibula, and nasal anomalies. Nasal defects are varied, and range from hypoplastic nasal skeleton to redundant nasal tissue, along with abnormalities of nasal subunits. Only 14 patients of LSS have been described in the literature. The authors present a unique case of a newborn with LSS and anterior nasal stenosis, resulting in respiratory failure. Early surgical intervention to relieve the bony and soft tissue overgrowth of the anterior nasal vault was required to allow for successful extubation.

Tessier no 3 cleft, bony syngnathia, and maxillary duplication are rare as independent anomalies and have never been reported together in a single case. Here we present a patient with congenital bony syngnathia, maxillary duplication, and a Tessier no. 3 nasal cleft. Other abnormalities included situs inversus, dextrocardia, coarctation of the aorta, left choanal stenosis, left coloboma, and hypertelorbitism. Given the unique presentation, we present our early surgical management to this complex problem., (Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

Lipoblastoma is a rare benign neoplasm found exclusively in the pediatric population that can occur anywhere in the body, most commonly seen in the extremities but also found in the face. We report an 8-month-old female subject who presented with multifocal soft tissue masses of the face. The diagnosis of lipoblastoma was made in 2 separate locations after surgical resection. Subsequent surgery was performed at the cheek site in an attempt to remove further mass, resulting in discovery of 2 other discrete tumors found to be lipoblastomas. Although the literature reports recurrence rates ranging from 14% to 27%, to our knowledge, aside from a case of Proteus syndrome, there are no known reports of multiple lipoblastomas in the literature. Presentation of the case, review of pertinent literature, and consideration of congenital infiltrative lipomatosis of the face follow.

Dentoalveolar infections represent a wide spectrum of conditions, from simple localized abscesses to deep neck space infections. The initial assessment of the patient with a dentoalveolar infection requires considerable clinical skill and experience, and determines the need for further airway management or emergent surgical therapy. Knowledge of head and neck fascial space anatomy is essential in diagnosing, understanding spread, and surgically managing these infections. Oral and maxillofacial surgeons must make use of their wide spectrum of clinical skill and knowledge to effectively evaluate and treat patients with dentoalveolar infections., (Copyright © 2011 Elsevier Inc. All rights reserved.)

Background: Macromastia necessitating breast reduction with free nipple grafts often results in a breast shape that lacks upper pole projection. This study aimed to describe and review the experience with use of the Graf/Biggs flap to improve upper pole fullness in patients requiring breast reductions with free nipple grafts., Methods: A retrospective review evaluated patients treated by the senior author who had breast reductions with free nipple grafts and simultaneous use of the Graf/Biggs flap. Reduction amount, aesthetic result, and complications including hematoma, seroma, infection, fat necrosis, wound breakdown, and nipple hypopigmentation were studied., Results: A total of six patients, with an average follow-up period of 22 months, underwent breast reductions with free nipple grafts and simultaneous use of the Graf/Biggs flap. The average reduction amount was 2,583 g per side. There were no complications except for some early wound breakdowns at the lower T incision of the inframammary fold. These wounds resolved with local care. All the patients exhibited hypopigmentation of the grafted nipples and desirable breast shape, with excellent upper pole projection. All were universally happy with their result., Conclusion: The Graf/Biggs flap is a reliable technique for increasing upper pole projection in the patient requiring breast reduction with free nipple grafts.

Heteropagus, or "parasitic," twins are asymmetric conjoined twins in which the tissues of a severely defective twin (parasite) are dependent on the cardiovascular system of the other, largely intact twin (autosite) for survival. The estimated incidence of heteropagus twins is approximately 1 per 1 million live births. Isolated case reports comprise most of published work on this rare congenital anomaly. In the past, review articles have focused narrowly on one particular anatomical subtype of parasitic twin and/or on the anatomicopathology observed. Here, we present the epidemiology, proposed pathoembryogenic origins, anatomical abnormalities, management, and outcomes of the wide array of heteropagus twins described in the English language literature., (Copyright © 2010 Elsevier Inc. All rights reserved.)

Many techniques have been described for lateral canthopexy. Here, we describe a technical modification of lateral canthopexy that involves percutaneous placement of a canthopexy suture through the confluence of the lateral superior and inferior grey lines or lateral canthal angle. A total of 52 canthopexies in 26 patients have been performed with excellent results and few complications. Our lateral canthopexy modification is a minimally invasive technique that is simple to perform, with absolute assurance of capturing the lateral canthal tendon., (Copyright 2009. Published by Elsevier Ltd.)

Background: Velopharyngeal insufficiency (VPI) remains a common problem in the care of patients with cleft palate and other related conditions. It may be successfully corrected with augmentation of the posterior pharynx. The purpose of this study was to review the experience and results of posterior pharyngeal augmentation over a 40-year period at one cleft center in the United States., Methods: All patients from 1968 to 2008 who underwent posterior pharyngeal augmentation for the treatment of VPI were reviewed retrospectively. Diagnosis, age at the time of operation, type of implant used, duration of follow-up, speech performance both pre- and postoperatively, and complications were analyzed. Speech performance preoperatively was assessed by video fluoroscopy and/or nasoendoscopy. Resonance was assessed by both the surgeon and speech pathologist using a 4 point grading scale., Results: One hundred eleven patients underwent posterior pharyngeal augmentation. Thirteen patients required removal of the implant because of extrusion (n = 12) or postoperative sleep apnea (n = 1). Five patients with failed implants at the primary operation had successful replacement at a second operation, resulting in a retained implant success rate of 93%. Of the 103 patients who were successfully augmented, 15 were lost to follow-up, leaving 88 patients with full postoperative speech evaluations. Of the 88 patients evaluated, 64 exhibited normal or near normal speech (73%), 22 patients had mildly nasal speech (25%), and 2 patients (2%) were not improved. Highest extrusion rates were seen for smooth surface silicone and rolled gortex implants., Conclusion: Augmentation of the posterior pharyngeal wall is a safe and effective treatment for patients with VPI. Implants are well tolerated and speech is substantially improved.

Background: Aesthetic reduction of the labia minora has gained popularity, and a number of different techniques have been described. Each procedure has its own set of advantages and disadvantages. However, no algorithm has been defined for pairing the degree of deformity with the optimal surgical procedure., Methods: Patients were stratified into one of four groups based on labial size. The surgeon chose one of three reduction techniques based on the degree of labial hypertrophy and the patient's aesthetic preferences for labial edge color and contour. Three reduction techniques were used including the edge excision technique, the inferior wedge resection technique, and deepithelialization reduction labioplasty. The success of aesthetic reduction was evaluated, as was symptomatic relief., Results: The 12 procedures performed included five deepithelialization techniques, four edge excision techniques, and three inferior wedge resection techniques. As reported, 92% of the patients were "very satisfied" with their aesthetic and functional results. The complications were minimal, with three patients experiencing minor wound healing difficulties that resolved spontaneously. One patient who underwent the edge excision technique was "not satisfied" and complained of overreduction., Conclusion: The authors found all three techniques for labia minora reduction to be useful in different clinical situations. A novel algorithm is described for matching the optimal surgical technique for each patient based on her degree of hypertrophy and aesthetic goals.

We describe a technique in which osseointegrated implants are used as anchors to support a custom-fabricated distraction device to advance the deficient anterior maxilla. The absolute rigidity of osseointegrated implants in bone provides stable anchorage for successful distraction.

We report a case of aggressive osteoblastoma of the mandible, an extremely rare primary bone tumor of the maxillofacial skeleton. Although osteoblastomas are benign tumors requiring only curettage for cure, there is a small subset of tumors that exhibit locally aggressive behavior and have atypical histopathologic features. Differentiation from low-grade osteosarcoma is often difficult. There is some disagreement as to the proper classification of these tumors. The correct diagnosis must be based on clinical, radiographic and pathologic features. Surgical resection and reconstruction is the recommended treatment for these invasive lesions.

Ectodermal dysplasia is a syndrome in which 2 ectodermally derived structures fail to develop. Patients have a reduced number of teeth, and dental implant reconstruction is the preferred method of replacing teeth. We report the use of the tent pole technique in the severely resorbed mandible with sinus lifts and block grafting in the maxilla to restore the maxillofacial complex of a female patient with ectodermal dysplasia. The treatment sequence and techniques are discussed.

Current techniques for model surgery and occlusal splint fabrication lack the ability to mark, measure and plan the position of the orbital rim for LeFort III and Monobloc osteotomies. This report describes a model surgery technique for planning the three dimensional repositioning of the orbital rims. Dual orbital pointers were used to mark the infraorbital rim during the facebow transfer. These pointer positions were transferred onto the surgical models in order to follow splint-determined movements. Case reports are presented to illustrate how the model surgery technique was used to differentiate the repositioning of the orbital rim from the occlusal correction in single segment and combined LeFort III/LeFort I osteotomies.