Psychological Adjustment in Apert Syndrome: Parent and Young Person Perspectives.

To date, limited research has been carried out into the psychological impact of having a diagnosis of Apert syndrome (AS) and the life experiences of families living with this condition. The aim of the current study was to explore psychological adjustment to AS from the perspectives of young people, and their parents, with the broader goal of informing care, and support for this population.Four young people (2 male) aged 11 to 15 years and their mothers were interviewed in their homes using a semistructured interview guide and photo-elicitation methods. Transcripts were analyzed using Interpretive Phenomenological Analysis.Three superordinate themes were identified from the data: (1) Acceptance and Adjustment: A Cyclical Journey; (2) A Barrier to Adjustment: Navigating Treatment; and (3) Facilitating Adjustment: Social Support. Families described adjustment as a cyclical process, which was sensitive to change, particularly in the context of ongoing medical treatment. Families also utilized many resources, particularly in the form of social support, to adjust to the challenges of AS and build resilience.The findings of this study have important implications for the implementation of patient-centered care within designated craniofacial treatment centers, which should at a minimum include the provision of reliable information throughout the treatment pathway, additional support from health professionals at key times of transition, and the coordination of support across medical teams, and other key organizations in the child's life.

Apert syndrome: an informative long-term dentofacial outcome.

The management of patients with Apert syndrome (AS) is complex and reflects the multisystem disease as a result of premature fusion of cranial vault, cranial base and midface sutures as well as extremity anomalies characterised by syndactyly. Early cranial sutural fusion results in craniocerebral disproportion which can lead to crisis surgical intervention due to raised intracranial pressure, ophthalmic and compromised airway concerns. Childhood inventions are often determined by psychosocial concerns and adult surgical interventions are often determined by cosmetic concerns. Treatments are provided by many different specialists within multidisciplinary teams (MDT). The treatment pathway extends from birth well into adulthood and is often associated with a heavy burden of care. Due to the extensive nature of the interaction with these patients MDT members have opportunities to provide enhanced patient-centred care and support.This case report provides an overview of the current knowledge of the aetiology of AS, illustrates the pathway of surgical and non-surgical management of AS and provides a long-term review of the dentofacial treatment outcomes.By having a better understanding of the impact of AS and treatment provided, MDT members can not only provide improved clinical treatment but also offer improved patient experiences for those with craniofacial anomalies, in particular, an increased awareness of the psychosocial challenges they endure.

Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care.

Pfeiffer syndrome is one of the autosomal dominant craniofacial syndromes. Classical clinical manifestations are coronal suture synostosis causing brachycephaly, midface retrusion, airway compromise, broad thumbs, and toes. Pfeiffer syndrome type I (classic type) is associated with FGFR1 mutation. However, wide range of clinical manifestations, with and without craniosynostosis, have been reported. Here, we present a family of Pfeiffer syndrome across 3 generations with identical FGFR1: c.755C>G (p.Pro252Arg) mutation. Where the members of the youngest generation have no cranial involvement. Lastly, we propose a guideline management for familial Pfeiffer syndrome management.

Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves.

OBJECTIVES/HYPOTHESIS: A tracheal cartilaginous sleeve (TCS) is a rare anomaly characterized by anterior fusion of tracheal cartilages. TCS is associated with syndromic craniosynostoses including Apert, Crouzon and Pfeiffer syndromes and FGFR2, FGFR3, and TWIST1 variants. This study presents a 30-year review of patients with syndromic craniosynostosis and TCS and describes diagnostic methods, genetic variants, surgical interventions, and long-term outcomes. STUDY DESIGN: Retrospective, single-institution review. METHODS: This review included patients with syndromic craniosynostosis and TCS treated at Seattle Children's Hospital from 1990 to 2020. Tracheostomy, genetic variants, and additional surgery were primary measures. Fisher's exact test compared need for tracheostomy in patients with proposed high-risk (FGFR2 p.W290 or FGFR2 p.C342) versus low-risk genetic variants. RESULTS: Thirty patients with TCS were identified. Average age at diagnosis was 12 months (range 2-weeks to 7.9-years; standard deviation 19.8 months). Syndromes included Pfeiffer (37%), Apert (37%), and Crouzon (26%). Severe obstructive sleep apnea was present in 76% of patients. Tracheostomy was performed in 17 patients (57%); five were successfully decannulated. Additional interventions included adenotonsillectomy (57%), nasal (20%), laryngeal (17%), and craniofacial skeletal surgery (87%). All patients with Pfeiffer syndrome and FGFR2 p.W290C variants and 83% of patients with FGFR2 p.C342 variants required tracheostomy, differing from other variants (P = .02, odds ratio 33, 95% confidence interval 1.56-697.96). One patient (3%) died. CONCLUSION: TCS contributes to multilevel airway obstruction in patients with syndromic craniosynostosis. Genetic testing in patients with FGFR2-related syndromic craniosynostoses may identify those at risk of TCS and facilitate early intervention. A better understanding of this patient population may foster individualized airway management strategies and improve outcomes. LEVEL OF EVIDENCE: 4 Laryngoscope, 132:215-221, 2022.

Insights and future directions of potential genetic therapy for Apert syndrome: A systematic review.

Apert syndrome is a genetic disorder characterised by craniosynostosis and structural discrepancy of the craniofacial region as well as the hands and feet. This condition is closely linked with fibroblast growth factor receptor-2 (FGFR2) gene mutations. Gene therapies are progressively being tested in advanced clinical trials, leading to a rise of its potential clinical indications. In recent years, research has made great progress in the gene therapy of craniosynostosis syndromes and several studies have investigated its influences in preventing/diminishing the complications of Apert syndrome. This article reviewed and exhibited different techniques of gene therapy and their influences in Apert syndrome progression. A systematic search was executed using electronic bibliographic databases including PubMed, EMBASE, ScienceDirect, SciFinder and Web of Science for all studies of gene therapy for Apert syndrome. The primary outcomes measurements vary from protein to gene expressions. According to the findings of included studies, we conclude that the gene therapy using FGF in Apert syndrome was critical in the regulation of suture fusion and patency, occurred via alterations in cellular proliferation. The superior outcome could be brought by biological therapies targeting the FGF/FGFR signalling. More studies in molecular genetics in Apert syndrome are recommended. This study reviews the current literature and provides insights to future possibilities of genetic therapy as intervention in Apert syndrome.

Estudo cefalométrico nas craniossinostoses sindrômicas / Cephalometric study of syndromic craniosynostosis

As craniossinostoses constituem um grupo heterogêneo de síndromes caracterizadas por uma fusão sutural prematura que ocorre isoladamente ou associada a outras anomalias. A retrusão facial é regra nas craniossinostoses faciais, com inversão da oclusão, recuo dos zigomáticos, falta de projeção nasal, desencadeando déficits funcionais como: defeitos na mastigação, má proteção ocular, exotropia e dificuldade respiratória por falta de profundidade da faringe. Postula-se que uma malformação da base do crânio tenha como consequência a fusão prematura das suturas cranianas. O objetivo deste estudo é descrever e analisar através de exames cefalométricos obtidos a partir de tomografias computadorizadas com reconstruções tridimensionais o fenótipo cefalométrico das craniossinostoses sindrômicas e as peculiaridades da caracterização pontos anatômicos referentes a essa patologia. Apresentamos análise cefalométrica de uma série de casos de pacientes com craniossinostose sindrômica caracterizada por S. Crouzon (4 casos), S. Apert (1 caso), e S. Pfeiffer (1 caso). Nossos resultados demostraram que o fenótipo cefalométrico das craniossinostoses sindrômicas apresenta discrepância grave entre os complexos craniomaxilomandibulares associada à restrição do crescimento da base do crânio, exibindo maxila retruída e mandíbula em posição anteriorizada. Quando comparados à norma clínica apresentam retrusão maxilar grave, diminuição da base posterior do crânio, retroposição horizontal da maxila no sentido anteroposterior, retroinclinação do plano palatal e mordida aberta esquelética, e tendência a desenvolver Classe III de Angle. O estudo cefalométrico tridimensional torna-se uma propedêutica recomendada para as craniossinostoses sindrômicas visando intervenções cirúrgicas, terapias ortodônticas e estéticas pois exigem abordagens clínicas precoces que modificam os pontos anatômicos craniofaciais fundamentais para um correto diagnóstico e programa terapêutico..

Craniosynostosis is a heterogeneous group of syndromes characterized by premature suture fusion that occurs alone or associated with other anomalies. Facial retrusion is a rule in facial craniosystosis, with inversion of occlusion, recoil of zygomatics, lack of nasal projection, triggering functional deficits such as: defects in chewing, poor eye protection, exotropia and difficulty breathing due to lack of pharynx depth. It is postulated that a malformation of the base of the skull has as a consequence the premature fusion of cranial sutures. The aim of this study is to describe and analyze through cephalometric examinations obtained from computed tomography scans with three-dimensional reconstructions the cephalometric phenotype of syndromic craniosystosis and the peculiarities of the characterization of anatomical points related to this pathology. We present cephalometric analysis of a series of cases of patients with syndromic craniosynostosis characterized by S. Crouzon (4 cases), S. Apert (1 case), and S. Pfeiffer (1 case). Our results showed that the cephalometric phenotype of the syndromic craniosystosis presents a severe discrepancy between the craniomaxillomandibular complexes associated with the restriction of the growth of the skull base, presenting a retrudible maxilla and a mandible in an anteriorposition. When compared to the clinical norm, they present severe maxillary retrusion, decreased posterior base of the skull, horizontal retroposition of the maxilla in the anteroposterior direction, retroinclination of the palatal plane and skeletal open bite, and tendency to develop Angle Class III. Three-dimensional cephalometric study becomes a recommended propaedeutic for syndromic craniosynostosis aimed at surgical interventions, orthodontic and aesthetic therapies because they require early clinical approaches that modify the anatomical craniofacial points fundamental to a correct diagnosis and therapeutic program..

Pharmacological targeting of KDM6A and KDM6B, as a novel therapeutic strategy for treating craniosynostosis in Saethre-Chotzen syndrome.

BACKGROUND: During development, excessive osteogenic differentiation of mesenchymal progenitor cells (MPC) within the cranial sutures can lead to premature suture fusion or craniosynostosis, leading to craniofacial and cognitive issues. Saethre-Chotzen syndrome (SCS) is a common form of craniosynostosis, caused by TWIST-1 gene mutations. Currently, the only treatment option for craniosynostosis involves multiple invasive cranial surgeries, which can lead to serious complications. METHODS: The present study utilized Twist-1 haploinsufficient (Twist-1del/+) mice as SCS mouse model to investigate the inhibition of Kdm6a and Kdm6b activity using the pharmacological inhibitor, GSK-J4, on calvarial cell osteogenic potential. RESULTS: This study showed that the histone methyltransferase EZH2, an osteogenesis inhibitor, is downregulated in calvarial cells derived from Twist-1del/+ mice, whereas the counter histone demethylases, Kdm6a and Kdm6b, known promoters of osteogenesis, were upregulated. In vitro studies confirmed that siRNA-mediated inhibition of Kdm6a and Kdm6b expression suppressed osteogenic differentiation of Twist-1del/+ calvarial cells. Moreover, pharmacological targeting of Kdm6a and Kdm6b activity, with the inhibitor, GSK-J4, caused a dose-dependent suppression of osteogenic differentiation by Twist-1del/+ calvarial cells in vitro and reduced mineralized bone formation in Twist-1del/+ calvarial explant cultures. Chromatin immunoprecipitation and Western blot analyses found that GSK-J4 treatment elevated the levels of the Kdm6a and Kdm6b epigenetic target, the repressive mark of tri-methylated lysine 27 on histone 3, on osteogenic genes leading to repression of Runx2 and Alkaline Phosphatase expression. Pre-clinical in vivo studies showed that local administration of GSK-J4 to the calvaria of Twist-1del/+ mice prevented premature suture fusion and kept the sutures open up to postnatal day 20. CONCLUSION: The inhibition of Kdm6a and Kdm6b activity by GSK-J4 could be used as a potential non-invasive therapeutic strategy for preventing craniosynostosis in children with SCS. Pharmacological targeting of Kdm6a/b activity can alleviate craniosynostosis in Saethre-Chotzen syndrome. Aberrant osteogenesis by Twist-1 mutant cranial suture mesenchymal progenitor cells occurs via deregulation of epigenetic modifiers Ezh2 and Kdm6a/Kdm6b. Suppression of Kdm6a- and Kdm6b-mediated osteogenesis with GSK-J4 inhibitor can prevent prefusion of cranial sutures.

Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report.

BACKGROUND: Greig cephalopolysyndactyly syndrome is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), macrocephaly, and ocular hypertelorism. Little is known about the neuropsychological phenotype and the developmental features of this syndrome. CASE PRESENTATION: We describe the clinical features of a 7-year-old Italian white boy affected by Greig cephalopolysyndactyly syndrome in comorbidity with autism spectrum disorder and the case of his 45-year-old white father, carrying the same point deletion (c.3677del) in the GLI3 gene and showing subclinical autistic symptoms. We performed a neuropsychiatric assessment of cognitive, adaptive, socio-communicative, and behavioral skills of the child. Concurrently, the father underwent his first psychiatric evaluation of cognitive skills and autistic symptoms. CONCLUSIONS: We report the first clinical description of an association between autistic symptoms and Greig cephalopolysyndactyly syndrome in two members of the same family with the same genetic point deletion. Further research is required in order to draw an accurate conclusion regarding the association between Greig cephalopolysyndactyly syndrome and autism.

Palliation in pediatric otorhinolaryngology.

Palliation in pediatric otorhinolaryngology is a rarely discussed but important aspect of care. This review encapsulates current thinking on pediatric palliative care (PC) and demonstrates, through one case, the impact of integrating PC into clinical care. We encourage early consideration of pediatric palliative care approaches for children with complex otorhinolaryngologic disorders.

Tratamientos ortopédicos y ortodóncicos de pacientes con síndromes poco comunes: protocolo / Orthopedic and orthodontic treatments of patients with unusual syndromes: a protocol

Son muchos los síndromes que manifiestan alteraciones dento-esqueletales y, a su vez, manifiestan diferentes complicaciones, no permitiendo tener un protocolo definido para cada síndrome. Para establecer un adecuado protocolo de tratamiento, basado en tratamientos realizados exitosamente y tomando en cuenta los fracasos para no incurrir en el mismo error, se hizo una revisión bibliográfica desdemayo hasta septiembre de 2012, de artículos publicados en los últimos diez (10) años, de revistas internacionales de ortodoncia, ortopedia y cirugía maxilofacial que registraban estudios de investigación y casuística, en buscadores científicos como PubMed, Scielo, Medline. Posteriormente, se tomó la clasificación de Kenneth Lyons Jones, MD, en su obra literaria Patrones Reconocibles de Malformaciones Humanas (2007), tomando en cuenta para la elaboración de este trabajo, los que presentan craneosinostosis, defectos faciales mayores y defectos faciales y de las extremidades como características mayores, que ameritan tratamiento para corregir problemas dento-esqueletales. De los 39 artículos se seleccionaron 11 que tenían relevancia con su tema. Conocer y describir todos los síndromes, mencionando cada característica, es de suma importancia para los profesionales de la salud, ya que de ellos depende no sólo el correcto diagnóstico, sino el tratamiento más adecuado...

Therapeutic effect of nanogel-based delivery of soluble FGFR2 with S252W mutation on craniosynostosis.

Apert syndrome is an autosomal dominantly inherited disorder caused by missense mutations in fibroblast growth factor receptor 2 (FGFR2). Surgical procedures are frequently required to reduce morphological and functional defects in patients with Apert syndrome; therefore, the development of noninvasive procedures to treat Apert syndrome is critical. Here we aimed to clarify the etiological mechanisms of craniosynostosis in mouse models of Apert syndrome and verify the effects of purified soluble FGFR2 harboring the S252W mutation (sFGFR2IIIcS252W) on calvarial sutures in Apert syndrome mice in vitro. We observed increased expression of Fgf10, Esrp1, and Fgfr2IIIb, which are indispensable for epidermal development, in coronal sutures in Apert syndrome mice. Purified sFGFR2IIIcS252W exhibited binding affinity for fibroblast growth factor (Fgf) 2 but also formed heterodimers with FGFR2IIIc, FGFR2IIIcS252W, and FGFR2IIIbS252W. Administration of sFGFR2IIIcS252W also inhibited Fgf2-dependent proliferation, phosphorylation of intracellular signaling molecules, and mineralization of FGFR2S252W-overexpressing MC3T3-E1 osteoblasts. sFGFR2IIIcS252W complexed with nanogels maintained the patency of coronal sutures, whereas synostosis was observed where the nanogel without sFGFR2S252W was applied. Thus, based on our current data, we suggest that increased Fgf10 and Fgfr2IIIb expression may induce the onset of craniosynostosis in patients with Apert syndrome and that the appropriate delivery of purified sFGFR2IIIcS252W could be effective for treating this disorder.

Cranio-maxillofacial, orthodontic and dental treatment in three patients with Apert syndrome.

BACKGROUND: Apert syndrome is a severe developmental malformation, clinically characterised by craniosynostosis, midface hypoplasia, a cone-shaped calvarium, ocular manifestations, typical dental findings and syndactyly of the hands and feet. Early craniosynostosis of the coronal suture, the cranial base and agenesis of the sagittal suture are prodromal characteristics for the typical craniofacial appearance in patients with Apert syndrome. CASE REPORTS: The aim of this report was to describe the maxillofacial and orthodontic management of three patients with Apert syndrome who attended the Craniofacial, Maxillofacial and Orthodontic clinics of the University Hospitals of the KU Leuven (Belgium). The typical clinical features, the general orthognathic treatment approach as well as individual approaches of three patients with Apert syndrome are being highlighted. FOLLOW-UP: The three patients with Apert syndrome have been followed up very closely by all involved specialised departments as well as by multidisciplinary teams from birth. CONCLUSION: This report demonstrated that a combined orthodontic and orthognathic surgical treatment plan could significantly improve the occlusal function as well as the facial and occlusal aesthetics in patients with Apert syndrome.

Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome.

We report here a newborn female infant with striking features consistent with severe Pfeiffer syndrome (PS). Pfeiffer syndrome is a rare craniofacial disorder that has an autosomal dominant mode of inheritance (OMIM 101600). Our patient had unexpected differences between her clinical features and those predicted from her genetic tests. The following clinical features were noted: severe exophthalmos, syndactyly, upper extremity contractures, and relative macroglossia. A head computed tomography with three-dimensional reconstruction showed that she did not have craniosynostosis. Genetic tests included a normal 46,XX karyotype and a chromosomal microarray that revealed a copy number gain at 14q23.1 as well as a copy number loss at 16p13.2. FGFR2 sequencing revealed a c.870G>T transversion in exon 8, which is predicted to encode a Trp290Cys substitution.The clinical features of severe exophthalmos and other features typical of PS without craniosynostosis were most consistent with a diagnosis of PS type III. However, her Trp290Cys FGFR2 mutation is reported to be associated with PS type II that includes kleeblatschädel (or "cloverleaf") skull anomalies as a cardinal feature. Our patient's lack of craniosynostosis predicted from this mutation is a striking example of variable expressivity. Such discrepancies between the physical findings (phenotype) and the mutation identified (genotype) and the association of different findings with different mutations in the same gene (clinical heterogeneity) can present difficulties in case management. Clinicians should be guided by careful phenotyping rather than by genotypic predictions alone.

[Uncommon acne-associated syndromes and their significance in understanding the pathogenesis of acne]. / Seltene Akne-assoziierte Syndrome und deren Bedeutung für das Verständnis der Pathogenese der Akne.

Acne is an intriguing model for the study of interactions between hormones, innate immunity, inflammation and wound healing (scarring). The manifestations and involvement of acne in different systemic diseases and some rare syndromes demonstrate its multifaceted nature. Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis (SAPHO) and Pyogenic Arthritis-Pyoderma gangrenosum-Acne (PAPA) syndromes, both regarded as autoinflammatory diseases, highlight the attributes of inflammation in acne. While SAPHO syndrome can be used to explore the pathogenic role of Propionibacterium acnes in acne, PAPA syndrome and Apert syndrome can help understand the genetic influence on acne. The genetic defects in the gain-of-function of FGFR2 mutations in Apert syndrome and acne nevus of Munro lend further support to the hypothesis that the interaction of forkhead box class O (FoxOs)-mediated transcriptional regulation with androgen receptor transactivation and insulin/insulin like growth factor-1(IGF-1)-signaling is crucial in acne pathogenesis. Novel biologics, such as tumor necrosis factor (TNF) blockers and IL-1 inhibitors, appear promising in opposing the inflammation associated with SAPHO and PAPA syndromes, but it remains to seen if they can also improve severe acne particularly in the long term.

Orthodontic and surgical treatment of a patient with Apert syndrome.

The aim of this case report was to present the combined orthodontic and surgical treatment of a patient with Apert syndrome in an adult stage. A 15 years old male patient with Apert syndrome was concerned about the appearance of his face and malocclusion. His profile was concave with a retruded maxilla and prominent lower lip. He had an Angle class I molar relationship with a 9.5 mm anterior open bite. The amount of crowding was 20.4 mm in the maxilla and 6 mm in the mandible. Cephalometric analysis revealed a skeletal Class III relationship due to maxillary hypoplasia with a dolichofacial growth pattern. Orthodontic treatment and orthognathic surgery were planned for the patient. After 45 months of presurgical orthodontics, the patient underwent two surgeries sequentially. The first surgery was performed to advance the maxilla and the second surgery was performed to correct the mandibular rotation and increase the overbite at the time of removing halo device. The amount of maxillary advencement was 8 mm. Mandibula was moved 1.5 mm anteriorly and rotated 1° to 1.5° (SNB and facial depth) in a counterclockwise direction. After a relatively long treatment, an esthetically pleasing and functional occlusion and correction of the skeletal problem was achieved in this adult case.

Reconstruction of the hand in Apert syndrome: two case reports and a literature review of updated strategies for diagnosis and management.

BACKGROUND: Apert syndrome is a set of complex malformations of the first brachial arch, with manifestations on the skull, face, hands and feet. At the level of the hand, the following signs are always present: complex syndactyly of the second, third and fourth digits with distal bone fusion; simple syndactyly of the fifth digit; foreshortened thumb with radial clinodactily; and symphalangism excluding the fifth digit. METHODS: The digital separation of an Apert hand should begin at 9 months of age and should be completed by 2 to 4 years of age. Our simplified approach consists of early bilateral surgery on border digits followed by unilateral separation of middle syndactily combined with thumb and digit osteotomies and bone grafting as required. RESULTS: Between 1995 and 2010 seven patients with Apert syndrome underwent reconstructive surgery of the complex hand syndactyly. The main target in our surgical strategy involved early bilateral separation of border digits, which started between 1 and 2 years of age. The unilateral middle syndactyly mass division with osteotomy of the thumb and other digits and bone grafting (as required) was carried out in later surgeries, which are usually completed by 4 years of age. The evaluation of the results was performed based on the functional results of the hand, morbidity, flap necrosis, skin graft lysis, postoperative range of motion in the small joints, gross grasp, pincer grasp, scar appearance, contractures of digits, and aesthetic outcome. CONCLUSION: As intended, this study proves the need for a complex surgical approach as early as possible with low revision rate, and acceptable functional and aesthetic outcome.

Children with Apert syndrome as adults: a follow-up study of 28 Scandinavian patients.

BACKGROUND: Apert syndrome (acrocephalosyndactyly type 1) includes craniofacial deformities, malformations of the extremities and the central nervous system, and often mental retardation. The aim of this study was to investigate the life situation of adult patients with Apert syndrome. METHODS: Thirty-three patients with Apert syndrome born before 1990 were identified in the Göteborg craniofacial registry. The authors used a questionnaire mainly dealing with education, employment, social relations, and quality of life. A matched control group was created for comparison. RESULTS: Five of the patients had died. Twenty-four of the remaining patients answered the questionnaire. The level of education was lower in patients than in controls (p = 0.007), but there was no significant difference in the extent of employment between the two groups. The difference in housing was significant (p < 0.001) and the majority of patients lived with their parents. Patients were less often married (p < 0.001), had fewer friends (p < 0.001), and had less experience with sexual relationships (p < 0.001). The somatic health was lower in patients [e.g., they had more hearing problems (p < 0.001) and more epilepsy (p = 0.005)]. Depressive mood periods were more common in patients (p < 0.001), but there was no difference between the groups regarding a generally positive attitude toward life. CONCLUSIONS: This study shows that patients with Apert syndrome manage relatively well in adulthood. The discrepancy in social relations between the Apert patients and the healthy control group indicates that further improvement of the treatment is desirable.

Bilateral endoscopic craniectomies in the treatment of an infant with Apert syndrome.

Patients with Apert syndrome commonly present with ocular proptosis due to bilateral coronal craniosynostosis and midfacial hypoplasia. Severe proptosis can cause visual compromise and damage, which is most commonly treated with bilateral orbital frontal advancement. The authors present the case of a patient who was treated at 8 weeks of age with endoscope-assisted bilateral coronal craniectomies followed by treatment with a custom-made postoperative cranial orthosis. The patient underwent the procedure without any complications. Over the ensuing months, the patient's proptosis corrected, the forehead and orbital rims advanced without the need for an orbital frontal advancement and craniotomies. This approach may provide an alternative treatment modality for these patients.

Craniofacial team management in Apert syndrome.

INTRODUCTION: Apert syndrome is one of the rarest of the craniosynostosis syndromes. Affected persons have extensive structural and functional impairments, some of which can be life threatening. Management requires team care from infancy to adulthood. The purposes of this article are to assess the outcomes in individuals with Apert syndrome after completion of treatment and to review current protocols for craniofacial team care and dental, orthodontic, and orthognathic surgical management. METHODS: This was a retrospective cohort study of 8 subjects with Apert syndrome. Cephalograms at 2 time points were compared: adolescence (before midface advancement) and at least 1 year after advancement. The cephalometric values were compared with paired t tests. Team protocols are delineated. RESULTS: Measurements indicating forward positioning of the maxilla increased significantly: SNA by 10.7° (P = 0.002) and midface length by 9.6 mm (P = 0.002). Sagittal jaw relationship improved significantly as well: ANB by 14° (P = 0.004) and the Wits appraisal by 8 mm (P = 0.003). Vertical dimensions also increased. CONCLUSIONS: All individuals had significantly improved and stable positions of the midface and normalized facial profiles after treatment.