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Finding safer and more effective treatment options are critical in progressing the field of pediatric oncology. These treatment options are discovered through completion and publication of clinical trials. The primary objective of this study was to assess the overall study characteristics of pediatric oncology clinical trials initiated between 2008 and 2021. The secondary objective of our study was to assess rates of discontinuation and reporting of results as required by the Food and Drug Administration (FDA). After acquiring pediatric oncology clinical trials from ClinicalTrials.gov, a cross-sectional study was performed. Included trials have an intervention exclusive to pediatrics and were conducted between 2008 and 2021. The results measured were characteristics of the clinical trials and their rate of discontinuation. Of the 7,930 trials originally returned from the search, 349 trials met inclusion criteria. The majority of the trials were phase 1 and 2 pharmaceutical interventions studying brain and blood cancer. Our study found that 14.9% (52) of the pediatric oncology trials were discontinued. Given the breadth of study within pediatric oncology, our overarching assessment shows that drug trials geared toward treating cancers of the brain and blood were dominant in the field. It is crucial for the advancement of science that results of trials are known. This avoids duplication of studies and waste of funds. Of the trials that were completed, 40.3% (58) did not report results to ClinicalTrials.gov. The nonreporting of this data limits the information available delaying the advancement of treatment options.

Background: Stigma towards children with obesity can begin as early as 3 years old, leading to increased risk for poorer mental health outcomes and lower quality of life. This includes discriminatory language used by peers and adults, which may be compounded by use within the medical community and in published research., Objectives: Our primary objective was to investigate adherence to person-centred language (PCL) in childhood obesity-related medical publications., Methods: We searched PubMed for childhood obesity-related articles from 2018 through 2020, from journals frequently publishing childhood-obesity-related research. Articles were randomized and searched for a list of predetermined, stigmatizing terms., Results: Of the sample of 300 articles, only 21.7% were adherent to PCL guidelines. The most frequent labels found were 'obese' appearing in 70.33% of articles and 'overweight' in 63.7%. Labels such as 'chubby', 'large', and 'fat' were less common, but still appeared in the medical literature., Conclusions: A majority of childhood obesity-related articles did not adhere to PCL guidelines. Given the negative effects of stigma among children with obesity, it is imperative to advocate for PCL use within the medical community. Increased stringency by journal editors and publishers may be the next step in this process., (© 2021 World Obesity Federation.)

Introduction: Approximately 3% of invasive U.S. cancer diagnoses are made among veterans in a Veterans Affairs (VA) clinic each year, while VA patients only comprise about 1.9% of the U.S. population. Although some research has shown that veterans have higher incidence rates of cancer compared to civilians, evidence is sparse regarding possible disparities in rates of cancer screening between these populations. Thus, the purpose of this study is to compare differences in rates of screening for colorectal, lung, breast, and cervical cancers between current and former U.S. Military service members and civilians., Methods: Using the data extracted from the Behavioral Risk Factor Surveillance System, we assessed the rates of cancer screening among current and former U.S. Military service members compared to civilians from self-reported surveys assessing when individuals had been screened for colorectal or lung cancer among all participants and breast and cervical cancer among women participants. Persons greater than 25 years of age were included in the cervical cancer screening, 50 years of age for colon cancer screening, and 40 years of age for the breast cancer screening-the latter based on recommendations from the American Cancer Society. We used multivariate logistic regression models to determine the adjusted risk ratios (ARRs) of current and former U.S. Military service members receiving screening compared to civilians, adjusting for age, gender, race, education, and health care coverage., Results: Current and former U.S. Military service members accounted for 2.6% of individuals included for the cervical cancer screening analysis, 2.2% for the breast cancer screening analyses, nearly 10% of the lung cancer screening, and 15% of the colorectal cancer (CRC) screening analyses. Prevalence of screening was higher for current and former U.S. Military service members among lung cancer and CRC. When controlling for age, race, education, and health care coverage, current and former U.S. Military service members were statistically more likely to be screened for CRC (ARR: 1.05; 95% confidence interval: 1.04-1.07) and lung cancer (ARR: 1.32; 95% confidence interval: 1.15-1.52). The odds of having completed a cervical or breast cancer screening were not significantly different between groups., Conclusion: Our study showed that current and former U.S. Military service members were more likely to complete CRC and lung cancer screenings, while no significant difference existed between each population with regard to cervical and breast cancer screenings. This is one of the few studies that have directly compared cancer screening usage among civilians and current and former U.S. Military service members. Although current and former U.S. Military service members were more likely to receive several cancer screenings, improvements can still be made to remove barriers and increase screening usage due to the disproportionate rates of cancer mortality in this population. These solutions should be comprehensive-addressing personal, organizational, and societal barriers-to improve prognosis and survival rates among current and former U.S. Military service members., (© The Association of Military Surgeons of the United States 2021. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Background: The Whitaker classification is a simple and widely used system for describing aesthetic outcomes after craniosynostosis surgery. The purpose of this study is to evaluate its interrater reliability for patients who have undergone fronto-orbital surgery., Methods: A retrospective review of patients with craniosynostosis who underwent surgical intervention at a tertiary referral center was conducted. Inclusion criteria were as follows: single-suture craniosynostosis, surgical intervention before age 2 years, and photographs taken before revisions between 5 and 20 years of age. Thirteen craniofacial surgeons independently reviewed the subjects' photographs and assigned Whitaker classifications. Interrater reliability was assessed with the Cohen kappa statistic., Results: Twenty-nine subjects were included. Average ages at surgery and at the time of postoperative photography were 0.8 year and 12.8 years, respectively. The κ value for all 13 raters was 0.1567 (p < 0.0001), indicating "slight agreement." Pairwise comparisons demonstrated κ values ranging from 0.0384 to 0.5492. The average rating for the set of 29 photographs differed significantly across the 13 raters (p = 0.0020) and ranged from 1.79 ± 0.68 to 2.79 ± 0.77. Finally, we found that average Whitaker classification did not differ significantly between subjects who subsequently underwent cranioplasty and/or fronto-orbital advancement and those who did not (subsequent procedures, 2.45 ± 0.55; no subsequent procedures, 1.88 ± 0.78; p = 0.1087)., Conclusions: The Whitaker classification exhibits low interrater reliability and does not predict future treatment. It may benefit craniofacial surgeons to create new evaluation tools with greater precision, to improve the quality of patient care and craniofacial outcomes research.

Background: Max Muenke included midface hypoplasia as part of the clinical syndrome caused by the Pro250Arg FGFR3 mutation that now bears his name. Murine models have demonstrated midface hypoplasia in homozygous recessive mice only, with heterozygotes having normal midfaces; as the majority of humans with the syndrome are heterozygotes, we investigated the incidence of midface hypoplasia in our institution's clinical cohort., Methods: We retrospectively reviewed all patients with a genetic and clinical diagnosis of Muenke syndrome from 1990 to 2014. Review of clinical records and photographs included skeletal Angle Class, dental occlusion, and incidence of orthognathic intervention. Cephalometric evaluation of our patients was compared to the Eastman Standard Values., Results: 18 patients met inclusion criteria - 7 females and 11 males, with average follow-up of 11.2 years (1.0-23.1). Cephalometric analysis revealed an average sella-nasion-A point angle (SNA) of 82.5 (67.8-88.8) and an average sella-nasion-B point angle (SNB) of 77.9 (59.6-84.1). The SNA of our cohort was found to be significantly different from the Eastman Standards (p = 0.017); subgroup analysis revealed that this was due to the mixed dentition group which had a higher than average SNA. 12 patients were noted to be in Class I occlusion, 4 in Class II malocclusion, and 2 in Class III malocclusion. Only one patient (6%) underwent orthognathic surgery for Class III malocclusion., Conclusions: While a part of the original description of Muenke syndrome, clinically significant midface hypoplasia is not a common feature. This data is important, as it allows more accurate counseling of patients and families., Level of Evidence: III., (Copyright © 2016 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.)

Background: While there is a clear correlation between unilateral coronal synostosis (UCS) and ocular motility abnormalities, the literature provides little information as to the true epidemiology of strabismus, or the underlying etiology of these paralleled pathologies. The purpose of this study is to investigate the rate of oculomotor abnormalities associated with UCS and its management., Methods: A retrospective review of all patients identified to have single-suture, nonsyndromic UCS treated by fronto-orbital advancement at a tertiary craniofacial referral center from 1977 to 2013 was performed. Inclusion criteria mandated complete medical, surgical, and ophthalmological records. Patients were evaluated for strabismus both preoperatively and postoperatively, and as to whether eye muscle surgery was performed., Results: A total of 181 patients underwent treatment for UCS at our institution during the study period, of which 79 met the inclusion criteria. Twenty-nine patients had strabismus prior to any craniofacial surgical intervention. Following fronto-orbital advancement, 23 patients (46 %) developed a new onset strabismus. Fifty-five patients had no change in their preoperative ocular examination, and one patient had resolution of preoperative strabismus. Of the 51 patients who had postoperative strabismus, 30 went on to have eye muscle surgery. There were no statistically significant differences in gender (p=0.477), race (p=0.395), sidedness of suture involvement (p=0.552), or age at intervention (p=0.66) in comparing the group with new postoperative strabismus and those without., Conclusions: This study sheds new light on the prevalence of strabismus in UCS, and more importantly, the risk of developing strabismus in the setting of conventional fronto-orbital advancement. This data will allow more accurate preoperative counseling and reinforces the important role of ophthalmologists as members of the multidisciplinary craniofacial team.

Within the diagnosis "craniosynostosis," there is a subset of patients who present with isolated, nonsyndromic, single-suture involvement. This study evaluates perioperative complications in this specific subset of patients over 4 decades at a single institution. To do so, we performed a retrospective review on consecutive patients undergoing correction of single-suture synostosis from May 1977 to January 2013 at a tertiary pediatric craniofacial center. Demographic information, operative details, and perioperative course were collected. Complications were categorized as either major or minor. A χ(2) test and Fisher exact test were used to compare all categorical variables. Continuous variables were analyzed using Wilcoxon rank-sum and Kruskal-Wallis tests.Seven hundred forty-six patients underwent surgical correction of nonsyndromic craniosynostosis. Of these, there were 307 (41.2%) sagittal, 201 (26.9%) metopic, and 238 (31.9%) unicoronal. Thirty-four patients had complications (4.6%). Eight were considered major (1.1%), including one postoperative mortality in a patient with hypoplastic left-sided heart syndrome. Minor complications occurred in 26 patients (3.5%) and included subgaleal hematoma (n = 3), seroma (n = 4), and superficial wound infection (n = 5). Metopic and sagittal suture involvement was significantly associated with a higher complication rate (P = 0.04). A child with isolated single suture synostosis and any comorbidity had a significantly greater risk of any complication (P < 0.001; odds ratio, 3.8) and specifically an increased risk of major complication (P = 0.031; odds ratio, 6.0). Subclassification of patients by time period yielded no statistically significant changes in perioperative morbidity. To conclude, these data allow us to counsel families more accurately with regard to morbidity and mortality and may potentially serve as a benchmark for future quality improvement work.

Background: This study reports long-term aesthetic outcomes with fronto-orbital advancement and cranial vault remodeling in treating unicoronal synostosis over a 35-year period., Methods: Retrospective review was performed on patients with isolated unicoronal synostosis from 1977 to 2012. Demographic, preoperative phenotypic, and long-term aesthetic outcomes data were analyzed with chi-squared and Fisher's exact test for categorical data and Wilcoxon rank-sum and Kruskal-Wallis rank for continuous data., Results: A total of 238 patients were treated; 207 met inclusion criteria. None underwent secondary intervention for intracranial pressure. At definitive intervention, there 96 (55 percent) Whitaker class I patients, 11 (6 percent) class II, 62 (35 percent) class III, and six (3 percent) class IV. Nasal root deviation and occipital bossing each conferred an increased risk of Whitaker class III/IV [OR, 4.4 (1.4 to 13.9), p = 0.011; OR, 2.6 (1.0 to 6.8), p = 0.049]. Patients who underwent bilateral cranial vault remodeling with extended unilateral bandeau were less likely Whitaker class III/IV at latest follow-up compared with those undergoing strictly unilateral procedures [OR, 0.2 (0.1 to 0.7), p = 0.011]. Overcorrection resulted in decreased risk of temporal hollowing [OR, 0.3 (0.1 to 1.0), p = 0.05]. Patients with 5 years or more of follow-up were more likely to develop supraorbital retrusion [OR, 7.2 (2.2 to 23.4), p = 0.001] and temporal hollowing [OR, 3.7 (1.5 to 9.6), p = 0.006] and have Whitaker class III/IV outcomes [OR, 4.9 (1.8 to 12.8), p = 0.001]., Conclusion: Traditional fronto-orbital advancement and cranial vault remodeling appears to mitigate risk of intracranial pressure but may lead to aesthetic shortcomings as patients mature, namely fronto-orbital retrusion and temporal hollowing., Clinical Question/level of Evidence: Therapeutic, IV.

Background: The authors evaluated the complications, revisions, and long-term aesthetic outcomes of patients with isolated metopic synostosis., Methods: A retrospective chart review was performed on consecutive metopic craniosynostosis patients treated from June of 1987 to June of 2012 at The Children's Hospital of Philadelphia. Patient demographics, operative details, and postoperative data were collected. Outcomes were reported as Whitaker classification and postoperative clinical characteristics assessed before additional interventions. Reoperation in patients with greater than 5 years of follow-up was noted. Appropriate statistical analyses were applied., Results: From 1987 to 2012, 178 patients underwent surgical correction of isolated metopic craniosynostosis, and 147 met inclusion criteria. Average age at surgery was 0.83 year (range, 0.3 to 4.7 years); average follow-up was 5.8 years (range, 1.0 to 17.8 years). There were 13 surgical complications (8.8 percent), three major (2.0 percent), and 10 minor (6.8 percent). At follow-up, 67 patients (56.8 percent) were classified as Whitaker class I, six (5.1 percent) as class II, 43 (36.4 percent) as class III, and two (1.7 percent) as class IV. Patients with greater than 5 years' follow-up (n = 57) were more likely to have temporal hollowing (OR, 2.9; 95 percent CI, 1.2 to 7.3; p = 0.021), lateral orbital retrusion (OR, 4.9; 95 percent CI, 1.9 to 12.7; p = 0.001), and Whitaker class III or IV classification (OR, 4.0; 95 percent CI, 1.5 to 10.6; p = 0.006) compared with those with less than 5 years' follow-up., Conclusion: This study reports low complication and reoperation rates in the treatment of isolated metopic craniosynostosis, but demonstrates a clear trend toward worsening aesthetic outcomes over time., Clinical Question/level of Evidence: Therapeutic, IV.

The psychosocial impact of craniofacial disfigurement affects both the developing child and his/her family. The Facial Reconstruction Center at the Children's Hospital of Philadelphia has employed a Parent Liaison (PL) to provide psychosocial support to families and has been an invaluable resource in this regard. We hypothesize that a PL impacts the overall outcome of the surgery by building trust between the parents and medical institution, and increasing satisfaction. An anonymous satisfaction survey was sent to families of craniofacial patients treated between January 1976 and June 2012. All patients who had undergone at least 1 craniofacial procedure had addresses on file and were included in this study. Statistical analyses were performed using the Mann-Whitney U test.During the study, 441 surveys were mailed to families meeting the inclusion criteria. A total of 151 families returned completed surveys (34.2%), and 121 surveys were included for analysis (27.4%). In rating overall satisfaction, families who met with the PL had statistically higher scores than those who had not (P = 0.0011). Parents who met with the PL preoperatively reported greater satisfaction in time spent answering questions (P = 0.0029) and the perception that questions were adequately answered (P = 0.0039). No statistical difference was observed in postoperative preparedness between families that did and did not meet the PL. The results demonstrate that the PL is beneficial in the education, experience, and satisfaction of families treated at a large Craniofacial Center. The PL complements the surgeon's treatment of the physical by adding psychosocial support.

Unicoronal craniosynostosis is characterized by ipsilateral superior and posterior displacement of the supraorbital rim and frontal bone, ipsilateral widening of the palpebral fissure, ipsilateral superior displacement of the brow, and contralateral brow depression. In the literature, surgical treatment has focused on bony anatomy, with little written about soft-tissue correction. Over the last 25 years, the senior author (L.A.W.) has incorporated soft-tissue refinements, including a rotational flap of the forehead, elevating the contralateral brow, depressing the ipsilateral brow, and equilibrating the supratarsal sulci in unicoronal craniosynostosis. This rotational forehead repositioning is a simple innovation that has provided for improved orbital and brow symmetry on long-term follow-up.

Background: Craniofrontal reshaping (CR) for the treatment of craniosynostosis results in a temporary cranial defect due to the advancement and/or expansion of the supraorbital and frontal bones. The goal of the present study was to determine whether the incidence traumatic brain injury (TBI) was increased in patients after CR as a result of this breach in skull integrity., Methods: We performed a retrospective chart review of all patients with a diagnosis of craniosynostosis who underwent CR between 1997 and 2007 at our institution. The incidence of TBI (defined as a computed tomography-documented brain or skull injury or loss of consciousness) was determined during a 2-year postoperative follow-up period. Patients older than 1 year at the time of surgery, or those with less than 2 years of follow-up after surgery, were excluded., Results: A total of 396 patients met the inclusion criteria. The incidence of TBI was zero (95% confidence interval, 0-760/100,000)., Conclusions: The estimated incidence of TBI after CR surgery is between 0 and 760 per 100,000 patients in our clinic population. These data indicate that although CR may be associated with a slightly increased risk of TBI while the skull is healing, the absolute incidence of such injury remains extremely rare.

We report on the novel association of trigonocephaly and polysyndactyly in two unrelated patients due to mutations within the last third (exon 14) and first third (exon 6) of the GLI3 gene, respectively. GLI3 acts as a downstream mediator of the Sonic hedgehog signal-transduction pathway which is essential for early development; and plays a role in cell growth, specialization, and patterning of structures such as the brain and limbs. GLI3 mutations have been identified in patients with Pallister-Hall, Grieg cephalopolysyndactyly syndrome (GCPS), postaxial polydactyly type A1, preaxial polydactyly type IV, and in one patient with acrocallosal syndrome (ACLS). Furthermore, deletions including the GLI3 gene have been reported in patients with features of GCPS and ACLS. To date, trigonocephaly has not been associated with abnormalities of GLI3 and craniosynostosis is not a feature of GCPS. However, Hootnick and Holmes reported on a father with polysyndactyly and son with trigonocephaly, polysyndactyly, and agenesis of the corpus callosum, considered GCPS thereafter. Guzzetta et al. subsequently described a patient with trigonocephaly, polysyndactyly, and agenesis of the corpus callosum postulating a diagnosis of GCPS, later considered ACLS. In retrospect, these two patients, evaluated prior to mutational analysis, and our patients, with confirmed mutations, likely fall within the GLI3 morphopathy spectrum and may provide a bridge to better understanding those patients with overlapping features of GCPS and ACLS. Based on this observation, we suggest GLI3 studies in patients presenting with this constellation of findings, specifically metopic craniosynostosis with polysyndactyly, in order to provide appropriate medical management and genetic counseling., ((c) 2010 Wiley-Liss, Inc.)

Background: Pancraniosynostosis presents with premature fusion of three or more major cranial sutures. The four presentations of primary pancraniosynostosis are kleeblattschädel, complex, progressive, and normocephalic. This study compares the clinical presentation and treatment course of patients with normocephalic presentation against the other pancraniosynostosis groups., Methods: The authors conducted a retrospective chart review of patients who presented to the craniofacial clinic at The Children's Hospital of Philadelphia with primary pancraniosynostosis born between January 1, 2000, and February 1, 2009. Patients with secondary causes of pancraniosynostosis were excluded. Data extracted included presenting symptoms, head shape, cranial sutures involved, and presence of clinical and radiologic evidence of elevated intracranial pressure. Surgical intervention(s) and the subsequent clinical course were noted. The between-group difference in the initial age of presentation and age at first cranial vault surgery were compared using the Mann-Whitney U test., Results: There were 17 patients with primary pancraniosynostosis: four kleeblattschädel, eight complex, one progressive, and four normocephalic. The average age at presentation and length of follow-up were 1.1 years and 3.8 years, respectively. Patients with normocephalic pancraniosynostosis presented at an average age of 3.5 years compared with 2 months in the other three groups (p = 0.01). The age at first cranial vault remodeling surgery for the normocephalic pancraniosynostosis group was 4 years 8 months compared with 11 months in the other three groups (p = 0.01)., Conclusions: Patients with normocephalic pancraniosynostosis have an insidious clinical course. Because of their indistinct cranial morphology, they present late with significant symptoms of elevated intracranial pressure requiring urgent surgical decompression.

Background: Patients with Saethre-Chotzen syndrome have a heterogeneous phenotype. The purpose of this study was to use the genotypic diagnosis of the authors' series of patients with TWIST1-confirmed Saethre-Chotzen syndrome to describe their natural history and long-term surgical outcomes., Methods: A retrospective chart review was performed on patients treated at The Children's Hospital of Philadelphia with TWIST1-confirmed Saethre-Chotzen syndrome (n = 22) over 23 years (1985 to 2008). Their phenotype, need for primary cranial vault remodeling surgery, and subsequent need for reoperation were recorded. Genetic records were reviewed to identify each patient's TWIST1 mutation., Results: There were nine female patients and 13 male patients. Ten had bicoronal (45 percent), six had unicoronal (27 percent), and four had multisuture (18 percent) craniosynostosis. One had metopic and another had sagittal craniosynostosis. Average follow-up was 7.6 years (range, birth to 19.6 years). Seventeen (77 percent) underwent initial cranial vault remodeling and 10 (59 percent) required repeat intracranial vault remodeling (Whitaker class IV). One patient required major reoperation with bone grafting (Whitaker class III). Three patients needed minor revision procedures (Whitaker class II). Three patients needed no further intervention (Whitaker class I). The locations of the TWIST1 gene mutations in this study did not correlate to a specific surgical outcome., Conclusions: TWIST1-confirmed Saethre-Chotzen syndrome is heterogeneous and manifests as either mild or severe craniofacial deformities. Our patients with TWIST1-confirmed Saethre-Chotzen syndrome had a reoperation rate of 65 percent for Whitaker class III and IV surgical outcome, and 59 percent required a secondary intracranial procedure for recurrent supraorbital retrusion.

Our objective was to retrospectively review the emerging role of CT, CTA, and perfusion CT (pCT) in the hyperacute stroke population of a community hospital. We reviewed 50 consecutive patients' records and imaging studies, who were treated with thrombolytic therapy within 6 h of symptom onset. Multidetector CT, CTA, and pCT studies were evaluated. Subsequent CT, magnetic resonance, or angiographic studies when available were correlated. Patients' clinical data at admission and outcomes at discharge were evaluated. Complications were tabulated. Of the 50 patients treated with thrombolytics, 37 had CT/CTA/pCT, the others non-contrast CT only. CT blood volume defect was present in a total of 14 patients, presaging permanent infarct in all. Arterial clot was seen in 28/37 CTAs (carotid "T" 6, MCA 16, vertebrobasilar 6). Viable penumbra was shown in 20/37; rescued penumbra was depicted after treatment in 14. 39 patients were treated with intravenous, nine with intra-arterial, two with both forms of thrombolysis. Modified Rankin score showed clinical improvement in 58%, three patients had complete recovery. Subsequent bleed was shown in two (4%), symptomatic in one (2%). Two patients died. Our experience suggests advanced CT is more sensitive to ischemia than routine CT, that salvageable penumbra can be identified, and that triage of patients with acute stroke for thrombolysis with CT/CTA/pCT is more robust than routine CT alone, and may improve outcomes in the community hospital setting.

Background: Craniofacial microsomia is one of the most common and well-characterized craniofacial anomalies. Tongue dysmorphism, however, has been neither thoroughly investigated nor reported in the context of this disease. This review focuses on the true prevalence of tongue dysmorphology in craniofacial microsomia and its relation to the deformities seen in this condition., Methods: A 20-year retrospective study was performed to determine the number of patients who had a documented tongue anomaly and any relation to the development of abnormal speech. In recognition of the limitations of this approach, a 1-year prospective study was also performed to see the true prevalence of tongue dysmorphology in these patients., Results: Eight of 167 patients (4.8 percent) in the retrospective study were found to have tongue dysmorphologies, as opposed to 24 of 55 (43.6 percent) in the prospective study. The majority of tongue anomalies were mild. Of the eight retrospective patients, seven currently have intelligible speech with a combination of intensive speech therapy and/or surgical correction. The eighth patient is without intelligible speech. Tongue dysmorphology was positively correlated with the degree of hard- and soft-tissue deformity., Conclusions: Tongue dysmorphologies in craniofacial microsomia, although usually mild, are frequently overlooked. The correlation of the tongue, soft tissue, and mandible anomalies may point to a common error early in gestation or an interdependence of adjacent growth centers.

Background: Posterior vault reconstruction involves exposure, craniotomy, and reconstruction of the occipital cranium. Although it is commonly performed, the safety and complications associated with posterior vault reconstruction have not been specifically or thoroughly examined., Methods: A retrospective chart review was performed for all patients undergoing posterior vault reconstruction at the Children's Hospital of Philadelphia between 1996 and 2006. Diagnosis, operative indication, age and weight at time of surgery, procedure type, intraoperative and postoperative complications, estimated blood loss, blood transfusion volume, and length of surgery and admission were recorded., Results: Fifty posterior vault reconstruction cases were included in the study (17 syndromic and 33 nonsyndromic). Mean estimated blood loss was 53.6 percent (range, 15.9 to 142.9 percent) of total blood volume and was statistically greater in syndromic patients (60.6 percent versus 50.0 percent; p = 0.038). Transfusion volume averaged 66.1 percent of total blood volume but was not statistically significant. Length of surgery and number of intraoperative complications were significantly elevated in the syndromic cohort (p = 0.007 and p = 0.037, respectively), whereas length of admission and number of postoperative complications were not. Complications were intraoperative in seven patients (14 percent) and postoperative in seven (14 percent), for an overall complication rate of 28 percent., Conclusions: This is the largest series to date addressing the safety and complications of posterior vault reconstruction. In the authors' experience, posterior vault reconstruction carries a higher risk of intraoperative complications and blood loss compared with that reported in the literature for other types of cranial vault reconstruction. In addition, syndromic patients were more likely than nonsyndromic patients to encounter intraoperative problems.

Background: Slit ventricle syndrome and postshunt craniosynostosis are uncommon complications after shunting procedures for congenital hydrocephalus. Slit ventricle syndrome occurs as a complication in 1 to 5 percent of patients after shunting procedures for hydrocephalus during infancy. These patients usually have had a shunt in place for years, with overdrainage of cerebrospinal fluid resulting in very small ventricles. Excessive intracranial decompression may result in ventricular collapse with the formation of slit-like ventricles and cranial vault collapse with secondary craniosynostosis., Methods: A retrospective review of 12 patients who had undergone cranial vault expansion for management of postshunt craniosynostosis and slit ventricle syndrome refractory to other treatment modalities was performed. All patients had initially been shunted for congenital hydrocephalus and subsequently underwent a mean of 4.9 shunt revisions before cranial vault expansion., Results: All 12 patients demonstrated decreased ventricular volume, with noncompliant slit-like ventricles in nine of these patients. Five patients demonstrated pancraniosynostosis, three patients demonstrated multiple sutural fusion, and isolated sagittal synostosis occurred in two patients. Two patients appeared to have "functional" synostoses with narrowed, overlapping sutures that were not actually fused. Eleven patients underwent bilateral fronto-orbital advancement with frontotemporoparietal expansion; one patient underwent only posterior vault expansion. Seven of the 12 patients required a mean of 2.3 shunt revisions after cranial vault expansion; five patients did not require subsequent revisions. Improvement in cranial vault shape was achieved in all 12 patients, as was improvement of neurologic symptoms in nine of the 12 patients., Conclusions: Cranial vault expansion is a useful approach in the management of the restricted cranium associated with slit ventricle syndrome and postshunt craniosynostosis. This approach resulted in a decreased need for shunt revisions and improvement of neurologic symptoms and cranial vault shape.

Purpose: Classic literature indicates an infrequency of metopic craniosynostosis (3 to 10 percent) compared to other single-suture craniosynostosis. Recent observation challenges these conceptions, warranting long-term demographic analysis., Methods: Syndromic craniofacial dysostoses and multiple suture involvement were exclusion criteria, leaving only single suture synostoses treated between 1975 and 2004. A chart review was performed and patient information recorded. Chi square analysis and Fisher's exact were used to determine differences in patient characteristics. A Moran's I statistic was used to determine differences in spatial means and whether changes in incidence of single-suture synostoses over time are a function of regional phenomena., Results: Over 800 patients presented to The Children's Hospital of Philadelphia with a diagnosis of single-suture synostosis. There was an outpacing of sagittal suture involvement over other sutures. Data demonstrate a decrease in unicoronal synostosis and an increase in metopic synostosis (p = 0.011). Geostatistical analysis reveals increasing separation between populations over the study period: 9.8 miles in the first 5 years to 20.8 miles in the last 5 years. Metopic maternal age increased between 1975-1989 and 1990-2004 (p = 0.002, 0.0002), while unicoronal maternal age did not. The proportion of male patients increased considerably in the metopic group compared to unicoronals from 1990-2004 (p = 0.0001), as did the proportion of syndromic metopic patients (p = 0.02). Plausible etiologies for these epidemiological shifts are discussed., Conclusions: Metopic synostosis is on the rise. Changing demographic bases and increasing proportions of syndromic patients may be clues to the etiology of this epidemiologic event.

Background: Fronto-orbital reconstruction is the standard of care for repair of unilateral coronal synostosis. This study examined the relationship between age at initial surgery and need for secondary surgery, to determine the optimal age for reconstruction., Methods: The series comprised 81 patients with unicoronal synostosis who underwent reconstruction over a 30-year period by a single surgeon. Measured outcomes included reoperation rate, relapse/defect rate, relapse interval, and problem rate., Results: Average age at surgery was 11.3 months (range, 1.5 to 71 months). The problem rate was 27.2 percent. Mean follow-up was 69 months (range, 6 to 234 months). The postoperative defect rate was 73 percent. Sixteen patients (20 percent) underwent reoperation to correct secondary deformities. Whitaker category I or II results were achieved in 90.1 percent. Problem rates for patients aged 0 to 6 months, 6 to 12 months, and older than 12 months were 13.3, 28, and 35, respectively. Secondary surgery was performed in 40 percent of patients whose first surgery was at 0 to 6 months, 7 percent aged 6 to 12 months, and 30.4 percent older than 12 months. After surgery, 87 percent of patients aged 0 to 6 months, 95 percent aged 6 to 12 months, and 87 percent older than 12 months had Whitaker category I or II results., Conclusions: Fronto-orbital advancement at younger than 6 months had the highest incidence of readvancement. Patients treated at 6 to 12 months had the least need for any secondary surgery; however, patients older than 12 months had the lowest incidence of readvancement. These results indicate that fronto-orbital advancement should be delayed until at least age 6 months to avoid relapse.

Purpose: Primary orbitocranioplasty for metopic craniosynostosis encompasses a variety of techniques, with variable long-term success. The authors present a series illustrating the evolution of surgical techniques and its impact on surgical outcomes., Methods: All patients with single-suture metopic synostosis treated at the Children's Hospital of Philadelphia from 1975-2004 were included. Demographic information, preoperative clinical findings, operative technique, postoperative complications, postoperative clinical findings, and length of follow-up were all recorded. Five techniques are presented, reflecting a transition from mere reshaping with metallic fixation to the increased use of primary bone grafting and resorbable fixation to expand the frontal region. Preoperative covariates and technique type were analyzed for effect on outcomes., Results: Eighty-six patients were identified. Mean follow-up was 50 months. In terms of esthetic outcome, patients with preoperative frontal irregularities had a higher incidence of postoperative deformities (P = 0.026). Patients with preoperative mean intercanthal distance <20 had a higher incidence of postoperative frontal irregularities (P = 0.045). Maximal expansion of the supraorbital bar via interpositional bone graft and stabilization of the construct with strategic bone grafting and resorbable fixation resulted in a lower incidence of postoperative temporal hollowing (P = 0.029). Patients with expansion and lateral reinforcement of the expanded bar had a lower incidence of reoperation (P = 0.026)., Conclusions: Undercorrection of metopic craniosynostosis is not an uncommon finding. To prevent long-term relapse, aggressive anterolateral expansion of the supraorbital bar via primary bone grafting and resorbable fixation with the overall goal of overcorrection may provide the best esthetic outcome.

Background: The ability of the immature skull to spontaneously heal large bony defects created after craniofacial procedures was examined over a 25-year period of craniofacial surgery at the Children's Hospital of Philadelphia., Methods: Only patients who underwent frontal orbital advancement and reconstruction, had at least 1 year of documented follow-up, and had the presence or absence of a bony defect documented on clinical examination were included. The sex, age at operation, diagnosis, history of a prior craniectomy, and presence or absence of a postoperative infection were determined for each patient. A variety of statistics were applied to the data., Results: Eighty-one patients met the inclusion criteria. A statistically significant association between age at operation and closure of bony defect was demonstrated. Children who closed a bony defect after frontal orbital advancement and reconstruction were significantly younger than those children who had a persistent bony defect. Iterative regression analyses demonstrated that a transition point between closure and the inability to close bony defects occurred between 9 and 11 months of age. Closure of bony defects was not statistically associated with sex, prior craniectomy, an FGFR mutation, or a postoperative infection in the regression analysis., Conclusions: Healing of bony defects after frontal orbital advancement and reconstruction is significantly related to age at initial operation, with a mean age for closure of less than 12 months. Between 9 and 11 months of age, a change occurs that results in an increasingly lower probability of bony defect closure; thus, all other considerations being equal, initial frontal orbital advancement and reconstruction would ideally take place before this occurs.

We report on the presence of craniosynostosis in four patients with the 22q11.2 deletion. In light of previous reports of the association, we propose that the occurrence is higher than the general population incidence. Therefore, we suggest that craniosynostosis should be considered a manifestation of the 22q11.2 deletion and conversely that the 22q11.2 deletion should be considered in the differential diagnosis of craniosynostosis., ((c) 2005 Wiley-Liss, Inc.)

A meeting entitled "The Art and Science of Anti-Aging Therapies: Convergence of Theory and Practice" took place on 18 and 19 March 2005 at the University of Pennsylvania School of Medicine. The symposium was held for health care professionals, researchers, and consumers to provide them with information about current trends in anti-aging therapies. The program, which combined medical, surgical, and nonpharmacological approaches to healthy successful aging, gave attendees the opportunity to make sense of the issues at hand and to sort out safe treatments from perilous quick fixes.

This retrospective chart review study examined the mental health histories and psychiatric medication usage of persons who sought cosmetic surgery. The medical records of 232 patients who had undergone a consultation for a cosmetic procedure were reviewed. The rates of self-reported psychiatric disorders and of psychiatric medication usage of these patients were compared with those of 200 patients who underwent noncosmetic procedures. Nineteen percent of cosmetic surgery patients reported a mental health history, significantly greater than the 4 percent of the noncosmetic patients who reported a psychiatric history. Eighteen percent of the cosmetic patients reported using a psychiatric medication at the time of their consultation, also significantly greater than the 5 percent of the noncosmetic patients who reported psychiatric medication usage. These results underscore the importance of collecting a psychiatric history from prospective cosmetic surgery patients. Recommendations for assessing patients' psychiatric history and status are provided.

The purpose of this work was to develop a simple yet comprehensive classification scheme dedicated to congenital nasal anomalies. To date, no such classification system has been proposed and widely used. A 22-year retrospective review was performed. Two hundred sixty-one patients with congenital nasal anomalies were identified. From this extensive database, a systematic morphogenic classification system was devised. Congenital nasal deformities were classified into four categories. Type I, hypoplasia and atrophy, represents paucity, atrophy, or underdevelopments of skin, subcutaneous tissue, muscle, cartilage, and/or bone. Type II, hyperplasia and duplications, representing anomalies of excess tissue, ranging from duplications of parts to complete multiples, are categorized here. In the type III category, clefts, the comprehensive and widely utilized Tessier classification of craniofacial clefts is applied. Type IV deformities consist of neoplasms and vascular anomalies. Both benign and malignant neoplasms are found in this category.

Only the metopic suture normally fuses during early childhood; all other cranial sutures normally fuse much later in life. Despite this, metopic synostosis is one of the least common forms of craniosynostosis. The temporal sequence of normal physiologic metopic suture fusion remains undefined and controversial. Therefore, diagnosis of metopic synostosis on the basis of computed tomography images alone can prove misleading. The present study sought to determine the normal sequence of metopic suture fusion and characterize both endocranial and ectocranial suture morphology. An analysis of computed tomography scans of 76 trauma patients, ranging in age from 10 days to 18 months, provided normative craniofacial data that could be compared to similar data obtained from the preoperative computed tomography scans of 30 patients who had undergone surgical treatment for metopic synostosis. Metopic suture fusion was complete by 6 to 8 months in all nonsynostotic patients, with initiation of suture fusion evident as early as 3 months of age. Fusion was found to commence at the nasion, proceed superiorly in progressive fashion, and conclude at the anterior fontanelle. Although an endocranial ridge was not commonly seen in synostotic patients, an endocranial metopic notch was virtually diagnostic of premature suture fusion and was seen in 93 percent of synostotic patients. A metopic notch was not seen in any nonsynostotic patient. The morphologic and normative craniofacial data presented permit diagnosis of metopic synostosis based on computed tomography images obtained beyond the normal fusion period.

This study investigated the body image concerns of women who sought cosmetic breast augmentation. Thirty breast augmentation candidates completed several measures of body image before their initial surgical consultation. Thirty physically similar women who were not interested in breast augmentation were recruited from the medical center and university community and also completed the measures. Breast augmentation candidates, as compared with women not seeking augmentation, reported greater dissatisfaction with their breasts. Augmentation candidates rated their ideal breast size, as well as the breast size preferred by women, as significantly larger than did controls. In addition, women interested in breast augmentation reported greater investment in their appearance, greater distress about their appearance in a variety of situations, and more frequent teasing about their appearance. Finally, breast augmentation candidates also reported more frequent use of psychotherapy in the year before the operation as compared with women not seeking augmentation. These results replicate and extend previous studies of body image in cosmetic surgery patients.

At the time of its founding in 1988, The Edwin and Fannie Gray Hall Center for Human Appearance at the University of Pennsylvania was the first such center in a major academic setting dedicated to the multispecialty serious study of problems of appearance. The concept was for five key specialties, originally, and now six, with primary interests in appearance, to meet regularly to present ideas and problems, and to approach the study and treatment of appearance in a comprehensive, scholarly, and multidisciplinary manner. The group has been cohesive, which has depended on frequent and regular personal interactions, as well as an adequate and supportive financial structure. With these factors in place, and a dedication to making it work, there have been publications, new ideas, and teamwork that has made it possible for competing specialties to effectively function together.

An algorithm for the management of sagittal synostosis in older children who underwent delayed cranial vault reconstruction is presented. This algorithm tailors the surgical approach to the specific craniofacial deformity present in each case. The scaphocephalic deformity characteristic of sagittal synostosis varies significantly when presentation is delayed beyond the first year of life, the time during which reconstruction is usually performed. Sixteen patients with sagittal synostosis who presented after 12 months of age, and were a mean of 3.2 years of age at the time of cranial vault reconstruction, were reviewed. Four patients demonstrated preoperative symptoms and objective findings indicative of increased intracranial pressure, including frequent headaches and emesis, papilledema, or digital markings on computed tomographic scan. Each of the 16 patients underwent either (1) single-stage total vault reconstruction with or without concomitant fronto-orbital expansion; (2) two-stage total vault reconstruction with anterior two-thirds vault expansion followed by transverse occipital expansion and recession a mean of 8.7 months later; or (3) anterior two-thirds vault reconstruction with or without fronto-orbital expansion. In each case, the extent of the scaphocephalic deformity determined the procedure used. The presence of severe frontal bossing associated with transverse restriction of the orbitotemporal region was an indication for fronto-orbital expansion in addition to vault reconstruction, whereas significant occipital protrusion was an indication for transverse posterior vault expansion and recession in addition to anterior two-thirds vault reconstruction. Excellent aesthetic results were obtained in all cases regardless of the type of reconstruction performed. However, it is essential that the extent of the deformity be carefully evaluated preoperatively to permit selection of the appropriate technique for reconstruction.

Recent work has demonstrated that fusion of the calvarial sutures is mediated by locally elaborated soluble growth factors, including the transforming growth factor-betas (TGF-betas), leading some to speculate that external biomechanical forces play little role in suture development. Clinical evidence has long suggested, however, that fetal head constraint may play a critical role in the pathogenesis of many cases of nonsyndromic craniosynostosis. The purpose of these experiments was to test the hypothesis that intrauterine constraint leads to an alteration in normal patterns of TGF-beta expression and that these alterations are associated with craniosynostosis. Fetal constraint was induced by allowing C57Bl/6 murine fetuses to grow for 2.5 days beyond the normal 20-day gestation by performing uterine cerclage on the eighteenth day. Cranial suture morphology was examined in hematoxylin and eosin-stained sections and in cleared whole-mount specimens, double stained with alizarin red S and Alcian blue. Expression patterns of TGF-beta1 and TGF-beta3 were examined by immunohistochemical techniques. Gross and microscopic examination of the cranial sutures of 17 constrained fetuses revealed changes that ranged from narrowing to complete osseous obliteration of the coronal and squamosal sutures. All sutures of 14 nonconstrained control pups remained patent. Fetal head constraint was associated with increased TGF-beta1 immunoreactivity within the new bone and the underlying dura when compared with nonconstrained age-matched controls. TGF-beta3 immunoreactivity was associated with the dura underlying patent, nonconstrained sutures, whereas constraint-induced synostosis was characterized by down-regulation of dural TGF-beta3 expression. These experiments confirm the ability of intrauterine constraint to induce premature fusion of the cranial sutures and provide evidence that intrauterine head constraint induces the expression of osteogenic growth factors in fetal calvarial bone and the underlying dura.

The theoretic advantage of distraction osteogenesis of the craniofacial skeleton, especially in cases of severe midface retrusion and in the presence of maxillary scarring, is prevention of relapse following significant advancements. The purpose of this study is to demonstrate the utility of a new low-profile, intraoral, internal device for midface distraction at the conventional or high Le Fort I level. In addition, the present study compares the efficacy of immediate versus delayed distraction on subsequent maxillary relapse. Four adult rhesus Macaca mulatta monkeys were divided into two groups. Group 1 underwent immediate midface distraction; group 2 underwent delayed distraction. All four monkeys underwent a modified Le Fort I osteotomy through an upper buccal sulcus incision and bilateral application of the intraoral midface distraction devices. No other osteotomies or incisions were necessary. Immediate distraction, performed in group 1, entailed intraoperative activation of the devices and distraction of 10 mm followed by a 5-day lag period before postoperative activation and distraction of an additional 10 mm at the rate of 1 mm/day. Delayed distraction, performed in group 2, entailed a 5-day postoperative lag period before device activation and distraction of 20 mm at the rate of 1 mm/day. Both groups thus underwent 20 mm of midface distraction. All devices were removed 6 weeks after completion of distraction. All monkeys tolerated the devices and daily distraction uneventfully. On the basis of serial cephalograms and dental models obtained throughout the experimental period, there was no evidence of relapse in either the immediate or delayed groups 6 months after distraction. In addition, on the basis of histologic, ultrastructural, and dry skull analysis, no significant differences were observed in the quality of regenerate bone obtained when comparing the immediate and delayed distraction groups. Significant midface advancement is thus feasible using this new internal, intraoral distraction device, which presents several advantages over other internal devices that require coronal incisions and additional osteotomies to achieve midface advancement. In addition, immediate distraction may abbreviate the distraction period without adverse sequelae.

Clinical teaching dictates that isolated unicoronal synostosis is sporadic in occurrence and is possibly related to intrauterine constraint. Despite this, isolated reports document a familial occurrence. It has previously been recognized that there may be a familial pattern of inheritance. Recently, mutations in fibroblast growth factor receptors (FGFRs) have been implicated in several syndromic craniosynostoses. At the authors' institution, mutations in FGFR3, located at chromosome 4p16, have been found to cause coronal synostosis. Two cases of unicoronal synostosis were found to have the same Pro250Arg missense mutation in FGFR3. This finding suggested that all patients with a diagnosis of unicoronal synostosis be screened for the FGFR3 mutation. Between January and December of 1996, patients with a diagnosis of plagiocephaly at the Children's Hospital of Philadelphia were evaluated for the FGFR3 mutation. Thirty-seven patients with unicoronal synostosis had mutational studies. Two additional patients were known to have the FGFR3 mutation at the onset of the study. Of the 37 patients screened, four were found to have the FGFR3 mutation, for a total of six patients with both unicoronal synostosis and the FGFR3 mutation. All patients with unicoronal synostosis were evaluated for facial dysmorphology and operative outcome. The six patients with the FGFR3 mutation had more severe cranial dysmorphology and were more likely to need surgical revision than those without the FGFR3 mutation. The occurrence of the FGFR3 mutation among patients with unicoronal synostosis provides evidence for a genetic basis of certain forms of plagiocephaly. The clinical, radiologic, and molecular findings will be an important addition to the surgical management and counseling of patients with unicoronal synostosis.

We present what we believe is the first case of a brain abscess resulting from orthognathic surgery reported in the literature. Although recent advances have significantly improved the treatment of brain abscesses, delays in diagnosis lead to persistent high rates of mortality. Often, the initial symptoms are vague and nonspecific. Commonly, the neurologic status of the patient deteriorates significantly before suspicion is raised and a CT scan is obtained. This case report is intended to benefit all practitioners who participate in the perioperative care of orthognathic surgery patients. Although the occurrence of a brain abscess is rare, it is hoped that this case will heighten the awareness of clinicians to this potential complication.

This paper describes a conceptual framework and human factors evaluation for usability assessment of commercially available telemedicine technology. Four criteria of human factors evaluation are utilized: (1) technical acceptability; (2) operational effectiveness; (3) clinical appropriateness; and (4) equipment selection. These criteria were applied to commercially available video-otoscope systems for otological evaluations.

This study represents an initial investigation into the adult psychological functioning of individuals born with craniofacial disfigurement. A total of 24 men and women born with a craniofacial anomaly completed paper and pencil measures of body image dissatisfaction, self-esteem, quality of life, and experiences of discrimination. An age- and gender-matched control group of 24 non-facially disfigured adults also completed the measures. As expected, craniofacially disfigured adults reported greater dissatisfaction with their facial appearance than did the control group. Craniofacially disfigured adults also reported significantly lower levels of self-esteem and quality of life. Dissatisfaction with facial appearance, self-esteem, and quality of life were related to self-ratings of physical attractiveness. More than one-third of craniofacially disfigured adults (38 percent) reported experiences of discrimination in employment or social settings. Among disfigured adults, psychological functioning was not related to number of surgeries, although the degree of residual facial deformity was related to increased dissatisfaction with facial appearance and greater experiences of discrimination. Results suggest that adults who were born with craniofacial disfigurement, as compared with non-facially disfigured adults, experience greater dissatisfaction with facial appearance and lower self-esteem and quality of life; however, these experiences do not seem to be universal.

A retrospective analysis of seven patients with clinically severe trigonocephaly was performed, including a review of preoperative and postoperative computed tomography scans. A method of analyzing the trigonocephalic deformity was developed. This is based on determination of the angular severity of the forehead (110 +/- 4 degrees) and the length of half of the supraorbital bar (40 +/- 3 mm). This central angle was found to be relatively constant in this population. Using simple trigonometric relationships, a rationale for the alternative method of reconstruction used in these patients is presented. This technique is based on transverse expansion of the supraorbital bar, transposition of the lateral orbital rim, expansion of the temporal fossa, and recontouring the orbital aperture. As a separate consideration and step, the bony interorbital distance is widened.

The term Baller-Gerold syndrome was coined by Cohen [1979: Birth Defects 15(5B): 13-63] to designate the phenotype of craniosynostosis and radial aplasia. It is thought to be a rare autosomal recessive condition, which, in some patients, presents with additional abnormalities, such as polymicrogyria, mental retardation or anal atresia. A phenotypic overlap of Baller-Gerold and Roberts-SC phocomelia syndrome was noted when a patient with bicoronal synostosis and bilateral radial hypoplasia was found to have premature centromere separation, a finding characteristic of Roberts syndrome [Huson et al.,1990: J Med Genet 27:371-375]. Other cases of presumed Baller-Gerold syndrome were rediagnosed as Fanconi pancytopenia, Rothmund-Thomson syndrome or VACTERL association. These reports led to a narrowed redefinition of Baller-Gerold syndrome based on the exclusion of cytogenetic and hematopoetic abnormalities and the absence of additional malformations in patients with craniosynostosis and preaxial upper limb abnormalities. Here we report on a patient with unilateral radial aplasia and bicoronal synostosis without additional malformations and without chromosome breakage, who fits this narrow definition of Baller-Gerold syndrome. We identified a novel TWIST gene mutation in this patient, a Glu181Stop mutation predicting a premature termination of the protein carboxy-terminal to the helix 2 domain. This report provides further evidence that Baller-Gerold is of heterogeneous cause, and a thorough evaluation is indicated to identify a possibly more specific diagnosis, including Saethre-Chotzen syndrome. This differential diagnosis is of particular importance, as it is an autosomal dominant trait. Therefore, the recurrence risk for parents of an affected child can be 50% if one parent carries the mutation, as opposed to the 25% recurrence risk for autosomal recessive inheritance. Offspring of the affected patient also have a 50% risk to inherit the mutation, while the risk to bear an affected offspring for an autosomal recessive trait is very low.

This study investigated body image dissatisfaction in breast reduction and breast augmentation patients. Thirty breast reduction and 30 breast augmentation patients completed two body image measures preoperatively. Breast reduction patients reported greater dissatisfaction with their overall body image as compared with breast augmentation patients, part of which can be understood as a function of their increased body weight. When asked specifically about their breasts, reduction patients displayed increased body image dysphoria and maladaptive behavioral change, including embarrassment about their breasts in public areas and social settings and avoidance of physical activity. Results are discussed in the context of ideal body weight cutoffs by third-party payers for reimbursement for breast reduction. Recommendations for reimbursement criteria that de-emphasize the role of body weight are made.

This study was the first empirical investigation of body image dissatisfaction and body dysmorphic disorder in cosmetic surgery patients. Of 132 women, 100 women (response rate, 76 percent) completed two body image measures prior to surgery, the Multidimensional Body-Self Relations Questionnaire and the Body Dysmorphic Disorder Examination Self-Report. Cosmetic surgery patients did not demonstrate greater dissatisfaction with their overall appearance compared with the reported normal values of the measures. However, when asked about the specific bodily feature they were considering for cosmetic surgery, they reported significantly greater dissatisfaction than a normative sample. In addition, 7 percent of the sample met diagnostic criteria for body dysmorphic disorder, a potential psychiatric contraindication to cosmetic surgery. Implications of these findings are discussed with respect to the nature of body image dissatisfaction and the prevalence of body dysmorphic disorder in cosmetic surgery populations.

This study assessed the body image concerns of reconstructive plastic surgery patients. Forty-three reconstructive surgery patients completed two measures of body image. Responses were compared with a group of patients seeking cosmetic procedures. The two groups did not differ in the degree of dissatisfaction with their overall appearance or dissatisfaction with the specific feature for which they were seeking surgery. Reconstructive patients did consider themselves less healthy and less invested in their appearance than did cosmetic patients. Seven of the reconstructive surgery patients (all scar revision patients) reported a level of dissatisfaction and preoccupation consistent with the psychiatric diagnostic of body dysmorphic disorder. These results underscore the importance of screening for body image dissatisfaction in persons with an objective deformity. Plastic surgeons are in an optimal position to identify body image concerns in these patients and provide appropriate referrals for psychotherapy.

To determine whether the autosomal dominant fibroblast growth factor receptor 3 (FGFR3) Pro250Arg mutation causes anterior plagiocephaly, patients with either apparently sporadic unicoronal synostosis (N = 37) or other forms of anterior plagiocephaly (N = 10) were studied for this mutation. Of 37 patients with unicoronal synostosis, 4 tested positive for the Pro250Arg mutation in FGFR3, and 33 were negative for this mutation. In three mutation positive patients with full parental studies, a parent with an extremely mild phenotype was found to carry the same mutation. None of the 6 patients with nonsynostotic plagiocephaly and none of the 4 patients with additional suture synostosis had the FGFR3 mutation. Because it is impossible to predict the FGFR3 Pro250Arg mutation status based on clinical examination alone, all patients with unicoronal synostosis should be tested for it. To assess their recurrence risk, all parents of mutation positive patients should be tested regardless of their clinical findings, because the phenotype can be extremely variable and without craniosynostosis.

This article reviews the history of psychological investigations of cosmetic surgery patients. These studies have been designed to address two fundamental questions: (1) Are there "patient types" or forms of psychopathology that serve as contraindications to cosmetic surgery? and (2) What is the likelihood of psychological change following cosmetic surgery? This review suggests that the research has not fully answered these questions. In response, we propose a new direction for psychological investigation, focusing on issues of body image in cosmetic surgery patients. We discuss the relationship between body image and cosmetic surgery and pose several relevant questions for future research.

This article discusses the psychology of cosmetic surgery. A review of the research on the psychological characteristics of individuals who seek cosmetic surgery yielded contradictory findings. Interview-based investigations revealed high levels of psychopathology in cosmetic surgery patients, whereas studies that used standardized measurements reported far less disturbance. It is difficult to fully resolve the discrepancy between these two sets of findings. We believe that investigating the construct of body image in cosmetic surgery patients will yield more useful findings. Thus, we propose a model of the relationship between body image dissatisfaction and cosmetic surgery and outline a research agenda based upon the model. Such research will generate information that is useful to the medical and mental health communities and, ultimately, the patients themselves.