Sagittal Synostosis and Its Association With Cognitive, Behavioral, and Psychological Functioning: A Meta-analysis.

Importance: Findings on the cognitive, behavioral, and psychological functioning of individuals with sagittal synostosis (SS) are highly disparate, limiting their clinical utility. Objective: To identify and review research on individuals with SS and to determine whether, and to what extent, they experience cognitive, behavioral, and psychological difficulties compared with their healthy peers or normative data for each measure. Data Sources: PubMed, Scopus, Embase, and PsycINFO were searched through January 2021 with no date restrictions. Scopus citation searches and manual checks of the reference lists of included studies were conducted. Study Selection: Studies included participants of any age who had received a diagnosis of single-suture (isolated or nonsyndromic) SS or scaphocephaly and who had been assessed on cognitive, behavioral, and psychological outcomes. Data Extraction and Synthesis: Data were independently extracted by 2 reviewers. Case-control outcomes (individuals with SS vs healthy peers or normative data) were compared using random-effects models with 3 effect sizes calculated: weighted Hedges g (gw), odds ratios (ORs), and mean prevalence rates. This study follows the Meta-analysis of Observational Studies in Epidemiology (MOOSE) reporting guidelines. Main Outcomes and Measures: Findings were categorized by surgical status (conservatively managed, presurgery, postsurgery, or combined); domain (eg, general cognition); type of cognitive, behavioral, or psychological measure (objective or subjective); and source of comparison data (peers or normative data). Results: Data from 32 studies, involving a pooled sample of 1422 children and adults with SS (mean [SD] age at assessment, 5.7 [6.6] years; median [interquartile range] age, 3.3 [0.5-10.3] years), were analyzed. Data on sex were available for 824 participants, and 642 (78%) were male. Individual study results varied substantially. Objective tests identified significant moderate group differences on 3 of 16 examined domains: presurgical motor functioning (3 studies; gw = -0.42; 95% CI, -0.67 to -0.18; P < .001), postsurgical short-term memory (2 studies; gw = -0.45; 95% CI, -0.72 to -0.17; P < .001), and postsurgical visuospatial ability (6 studies; gw = 0.31; 95% CI, 0.18 to 0.44; P < .001). Prevalence estimates and ORs varied widely, with 15 studies showing prevalence estimates ranging from 3% to 37%, and 3 studies showing ORs ranging from 0.31 (95% CI, 0.01 to 6.12) for processing speed in the conservatively managed sample to 4.55 (95% CI, 0.21 to 98.63) for postsurgical visuospatial abilities. Conclusions and Relevance: In this meta-analysis, findings for the functioning of participants with SS were highly disparate and often of low quality, with small samples sizes and control groups rarely recruited. Nonetheless, the findings suggest that some individuals with SS experience negative outcomes, necessitating routine assessment.

Surgical Implications of the Anteriorly Displaced Segments of the Anterior Cerebral Artery in the Management of Frontoethmoidal Meningoencephalocele.

BACKGROUND: Preservation of the anterior cerebral arteries (ACAs) is important in the surgical management of frontoethmoidal meningoencephalocele (FEME). This would avoid complications related to the loss of blood supply to the part of the brain supplied by the ACA. Previous reports have identified hydrocephalus, microcephaly, cerebral dysplasias amounting to a 15% to 20% prevalence of brain anomalies in patients with FEME. What has not been previously reported are cerebral vasculature changes in the frontal region in FEME and how these may impact on the surgical correction and clinical outcome. METHODS: Two patients of FEME that demonstrate cautionary radiologic findings in relation to the ACAs and anterior fossa anatomy are discussed. RESULTS: The ACA in a 4-year-old boy with FEME was displaced anteriorly with the long A1 segments that extend into the defect. In the 2nd patient, a 4-year-old girl, we report on the complications related to the injury of ACAs from a previously partially resected FEME. CONCLUSION: The importance of the anterior cerebral vasculature around the FEME during surgery is crucial to prevent complications resulting from damage to a looping A1 segment of the ACA.

The ophthalmic sequelae of Pfeiffer syndrome and the long-term visual outcomes after craniofacial surgery.

BACKGROUND: Pfeiffer syndrome is a rare, genetic condition characterized by craniosynostosis and midface hypoplasia, with resultant ophthalmic sequelae. The gold standard of treatment is fronto-orbital advancement. We analyzed a large database of Pfeiffer syndrome patients to report the rate of ophthalmic sequelae and the long-term visual outcomes after craniofacial surgery and to compare Pfeiffer syndrome to other craniosynostosis syndromes. METHODS: The medical records of Pfeiffer syndrome patients examined between 1988 and 2010 were examined retrospectively. Diagnosis was based on clinical and genetic testing. Long-term data were presented as a rate of incidence per person-year to overcome variable follow-up times. RESULTS: A total of 22 patients were included. Proptosis (n = 21 [95%]), refractive error (n = 13 [59%]), and strabismus (n = 12 [55%]) were the most common primary features at presentation. Exposure keratitis (n = 9 [41%]) and amblyopia (n = 3 [14%]) were the most common secondary features. At presentation, 24 eyes [86%] with documented best-corrected visual acuity were normal; 4 [14%] were impaired; and none were blind. Fronto-orbital advancement reduced the rate of proptosis from 28%/person-year at presentation to 2%/person-year. There were no cases of active exposure disease postoperatively. At last follow-up, there was a 7%/person-year rate of impaired vision secondary to corneal scarring and amblyopia and a 3%/person-year rate of blindness-all from optic atrophy. CONCLUSIONS: In this study, the rates of proptosis and exposure keratitis were high in Pfeiffer syndrome, especially compared to Apert and Crouzon syndromes. Fronto-orbital advancement was successful in correcting orbital abnormalities. Long-term ophthalmic follow-up is essential to ensure best visual outcome.

Apert syndrome: Surgical outcomes and perspectives.

PURPOSE: Apert syndrome is a rare congenital malformation with severe craniofacial anomalies. The aim of this study was to review the outcomes of craniofacial and neurosurgical interventions in Apert syndrome patients treated at a single institution. MATERIALS AND METHODS: A retrospective review of all patient records with a diagnosis of Apert syndrome assessed and managed in the Australian Craniofacial Unit (ACFU) from 1985 to 2013 was conducted. RESULTS: A total of 94 patients were identified, and 130 transcranial procedures were performed. Of the patients, 83 underwent a fronto-orbital advancement (FOA) as their primary procedure, and 18 patients also underwent a posterior vault procedure. Twenty patients underwent a fronto-facial monobloc advancement. Overall, 70% of patients underwent at least 2 transcranial procedures. Shunts were inserted in 2 patients preoperatively and in 5 patients postoperatively for cerebrospinal fluid (CSF) leaks or acute hydrocephalus. Re-do FOAs were performed in 8 patients. Patients who underwent an FOA at the age of more than 18 months had no recurrence of raised intracranial pressure (ICP). Of 18 patients who also underwent a posterior vault procedure, 1 patient had recurrence of raised ICP. Midfacial surgery was performed early if there was evidence of obstructive sleep apnoea (OSA), but delayed midfacial surgery was preferred. Complications were reported in 18% of procedures. The most common complications were CSF leaks and acute hydrocephalus. CONCLUSION: Shunting is rarely required in Apert syndrome patients, confirming a predominantly nonprogressive ventriculomegaly. FOA appears to be a more stable procedure when performed at an age of more than 18 months. Undergoing a posterior vault procedure may reduce the risk of recurrent raised ICP and lead to fewer transcranial procedures needed in childhood. Midfacial surgery should be delayed until adolescence where there is no evidence of OSA, psychological disturbance, or complications of exorbitism. Complications are rare when these patients are treated by an experienced craniofacial team.

Apert Syndrome: Outcomes From the Australian Craniofacial Unit's Birth to Maturity Management Protocol.

The complex, progressive, multisystem nature of Apert syndrome presents many challenges to managing surgeons. Based on the pioneering work of Paul Tessier, the senior author developed a multidisciplinary birth to maturity management protocol for Apert syndrome. Between 1975 and 2014 the Australian Craniofacial Unit has treated 174 Apert syndrome patients and 28 have completed full protocol management. This paper reviews the scientific contribution made to the management of Apert syndrome by the Australian Craniofacial Unit, the development and evolution of the protocol and presents comprehensive data on the surgical and nonsurgical craniofacial interventions, and outcomes for the 28 patients who have completed the programme; 26 had normal visual acuity, 22 had normal hearing, 20 achieved normal or nearly normal speech, 24 a functional class I occlusion, 18 completed mainstream schooling of whom at least 8 went on to tertiary education, at least 13 gained employment and 15 developed good social groups. These outcomes equal or exceed those presented by other authors and provide compelling evidence of the value of protocol management in clinical outcomes, in addition to their value in international collaboration, and scientific development of future therapeutic strategies for the management of Apert syndrome.

The Craniofacial and Upper Limb Management of Nager Syndrome.

INTRODUCTION: Nager syndrome is a rare condition characterized by craniofacial and upper limb abnormalities. It is commonly mistaken for Treacher Collins syndrome, with which it shares the same craniofacial phenotype. However, patients with Treacher Collins do not exhibit hand anomalies, which are seen in patients with Nager syndrome. This paper reviews the multidisciplinary management of patients with Nager syndrome who were treated at the Australian Craniofacial Unit, Adelaide and the Erasmus Medical Centre, Rotterdam. METHODS: The database of both units was scrutinized and the case-notes of the patients with Nager syndrome were reviewed. Data was collected on patient demographics, surgical management, complications, and outcome. RESULTS: Nine patients (6 M:3 F) were identified with Nager syndrome, with a mean age at presentation of 3.7 years (range 8 days to 11.8 years). The mean follow-up time was 2.2 years (2 months to 19 years). SF3B4 mutation was noted in 2 patients and 1 patient had an X:9 translocation. Seven (77.8%) had obstructive sleep apnoea, with 5 patients diagnosed as severe obstructive sleep apnoea. Four patients had pollicization of their index, 2 patients had excision of extra radial digits and 1 patient underwent thumb duplication correction. Craniofacial surgery included mandibular advancement in 5 patients, temporo-mandibular joint reconstruction in 2 patients, and a genioplasty in 1 patient. CONCLUSION: Nager syndrome is a rare acrofacial dysostosis syndrome that is best managed within the realms of a multidisciplinary team. The authors would advocate early pollicization in patients with thumb anomalies to prevent any impairment in manual dexterity.

Central nervous system and cervical spine abnormalities in Apert syndrome.

PURPOSE: Apert syndrome characterized by acrocephalosyndactyly is a rare autosomal dominant congenital malformation with a prevalence of 1/65,000 births. With an extensive range of phenotypic and developmental manifestations, its management requires a multidisciplinary approach. A variety of craniofacial, central nervous system (CNS), and cervical spine abnormalities have been reported in these patients. This study aimed to determine the incidence of these CNS abnormalities in our case series. METHODS: Retrospective review of Australian Craniofacial Unit (ACFU) database for Apert patients was performed. Data collected that included demographics, place of origin, age at presentation, imaging performed, and images were reviewed and recorded. Where available, developmental data was also recorded. RESULTS: Ninety-four patients seen and managed at the ACFU had their CNS and cervical spine abnormalities documented. The main CNS abnormalities were prominent convolutional markings (67 %), ventriculomegaly (48 %), crowded foramen magnum (36 %), deficient septum pellucidum (13 %), and corpus callosum agenesis in 11 %. Major C-spine findings were present in 50.8 % of patients and included fusion of posterior elements of C5/C6 (50 %) and C3/4 (27 %). Multilevel fusion was seen in 20 %. Other abnormalities were C1 spina bifida occulta (7 %) and atlanto-axial subluxation (7 %). CONCLUSION: Multiple CNS and cervical spine (c-spine) abnormalities are common in Apert syndrome. The significance of these abnormalities remains largely unknown. Further research is needed to better understand the impact of these findings on growth, development, and treatment outcomes.

The Management of Nonsyndromic, Isolated Sagittal Synostosis.

AIM: Isolated sagittal synostosis is the commonest form of craniosynostosis. The reasons for surgery are to normalize the head shape and to increase the cranial volume, thus reducing the risk of raised intracranial pressure and allowing for normal brain development. It has been suggested that sagittal synostosis may impair neuropsychological development. This systematic review appraised the literature on the management of sagittal synostosis. METHODS: A literature search was performed with the assistance of a professional librarian. Studies selected had to satisfy the criteria set by PICO (patients, intervention, comparison, and outcome). Cranial index and neuropsychological outcome were used as outcome measures. MINORS was used to assess the methodological quality of the selected articles. A score of 75% was deemed to be of satisfactory quality, and the quality of the evidence from the selected studies was graded using the GRADE system. RESULTS: One hundred forty-eight articles were initially identified. Only 6 articles fulfilled the PICO criteria and scored a minimum of 75% on MINORS. Four studies compared 1 technique to another with documented cranial indices. Two studies compared 1 group to another and assessed the neuropsychological development. According to GRADE, the quality of evidence was deemed to be very low. CONCLUSIONS: This systematic review assessed cranial index and neuropsychological outcome following surgery for isolated, nonsyndromic sagittal synostosis. The quality of the evidence in the published literature was noted to be of very low quality. There is a need for better-designed, prospective studies to guide surgeons involved in management of sagittal synostosis.

Neuropsychologic outcomes in patients treated for complex maxillofacial trauma.

Complex fractures of the craniofacial skeleton are caused most commonly, in Australia, by motor vehicle accidents, falls, and interpersonal violence. Significant force is required to fracture the facial skeleton, and the long-term effect these forces have on higher brain function is unclear. The study aim was to assess long-term neuropsychologic changes associated with complex fractures of the facial skeleton. Patients managed for complex fractures of the facial skeleton by the Australian Craniofacial Unit, South Australia, between 2002 and 2011, with at least 1-year follow-up, were assessed using the European Brain Injury Questionnaire. This questionnaire has previously published control data to which results were compared. Of the 2077 patients treated for facial fractures, 46 were identified as having complex fractures of the facial skeleton. Of the 46 patients, 13 were able to be contacted and assessed using the European Brain Injury Questionnaire. Changes in personality and ability to socialize and undertake executive function were noted in approximately 30% of the patients. In addition, approximately 50% of the patients' family members reported significant changes in the patients' life after the accident, yet this was only recognized by approximately 30% of the patients. This study shows that, despite the "crumple zone" of the facial skeleton providing some level of protection to the brain, patients having complex fractures of the facial skeleton have long-term neuropsychologic changes that affect both their own and their family's quality of life.

From birth to maturity: midline tessier 0-14 craniofacial cleft patients who have completed protocol management at a single craniofacial unit.

INTRODUCTION: The rare craniofacial clefts form an important component of craniofacial pathology, but little has been written regarding the definitive management of affected patients. This report describes the presentation, management, and outcomes in a group of patients who have completed their protocol management for treatment of midline Tessier 0-14 clefts. METHODS: A retrospective review of the clinical, photographic, and radiographic records of all midline cleft patients treated at a single center was performed. Data describing each patient's presenting features, surgical management, and final outcomes are presented. RESULTS: Four patients were identified as having completed protocol management for Tessier 0-14 midline clefting at the unit. The age range at the most recent follow-up was 19.3 to 36.3 years. Three patients had entered protocol management during infancy, and the remaining patient presented to the unit at 13.8 years of age. The surgical management regimen is described in detail. Outcomes for development, hearing, speech, and vision at maturity were all acceptable. Three patients attained a respectable educational and social status. With respect to facial aesthetics scores, the only significant difference after management was a significant worsening of deformity in the region of the orbits. The Whitaker grade for repeat surgery improved after management (3.25 before to 2.63 postmanagement), but this improvement was not statistically significant. CONCLUSION: Presented are the results of the first cohort of midline Tessier 0-14 cleft patients to have completed protocol management at a single craniofacial unit. As more patients complete their management in the future, further refinements to the protocol could be made.

Long-term visual outcomes in patients with orbitotemporal neurofibromatosis.

BACKGROUND: The study aimed to review the presentation and long-term visual outcomes of patients with orbitotemporal neurofibromatosis. DESIGN: Retrospective case series. PARTICIPANTS: Patients with orbitotemporal neurofibromatosis presenting from 1981 to 2009. METHODS: Demographic data, examination findings, causes of vision impairment and interventions performed were recorded for each patient from presentation through subsequent follow-up encounters. Visual impairment was defined as an ipsilateral Snellen acuity of <6/12. MAIN OUTCOME MEASURES: The proportion of patients with visual impairment or enucleation, the rate of new vision loss during follow up; and causes for vision loss or enucleation. RESULTS: Thirty-seven patients (17 female) were included. Median presenting age was 15 years (range 2-45) with an average follow up of 7.4 years (range 0.5-20.3). Visual impairment occurred in 54% of patients at presentation. Causes were amblyopia (13 of 37), optic atrophy (4 of 37), previous enucleation/evisceration (2 of 37), and optic nerve glioma (1 of 37). At presentation, 76% of patients had ptosis, and 51% had strabismus. Thirty-one patients had surgery, with an average of two procedures per patient. At final follow up, 62% had visual impairment. The rate of visual decline was 2% per patient-years. Causes of visual decline were two patients with optic nerve atrophy, one with exposure keratitis and one whose cause was unknown. Five blind patients had enucleation. CONCLUSIONS: The first series of orbitotemporal neurofibromatosis to focus on visual outcomes was presented. Vision loss is common, with a high prevalence of amblyopia. Close monitoring from an early age is needed to prevent visual impairment.

Management of isolated fractures of the medial orbital wall.

The purpose of the present study was to retrospectively review the management and outcome of patients treated by the Australian Craniofacial Unit (ACFU) for isolated fractures of the medial orbital wall. A retrospective medical record review of patients treated between 2008 and 2012 was performed. Ethical approval was granted by the ethics committee of the Women's and Children's Hospital. Patient demographics, causes of injury, physical examination findings, management (conservative or surgical), and findings at follow-up were recorded. Computed tomographic scans were reviewed, and values for fracture area and volume of displaced tissue were calculated. Twenty-four patients with this injury were treated by the ACFU between 2008 and 2012. Eighteen were male, and 6 were female. Assault was the most common cause (15/24 patients). Fifteen patients were managed conservatively, and 9 were treated surgically. In those patients managed conservatively, the mean fracture area was 1.44 cm (0.47-2.47 cm), and the mean volume of displaced tissue was 0.48 mL (0.03-1.15 mL). In patients treated surgically, the mean fracture surface area was 2.32 cm (0.07-3.43 cm), and mean volume of displaced tissue was 0.94 mL (0.00-1.47 mL). No patients were found to have clinically significant enophthalmos at follow-up examination. The current practice of managing isolated fractures of the medial orbital wall at the ACFU has been successful in preventing significant enophthalmos. The thresholds for fracture area and, in particular, volume of displaced tissue, proposed by Jin et al (J Oral Maxillofac Surg 2000;58:617-620), show merit as a tool for determining patient management.

Binder syndrome.

UNLABELLED: Patients with chondrodysplasia punctata (CDP) usually present with Binder-type features, and often CDP is misdiagnosed as Binder syndrome. This study reviewed the management and outcome of patients with Binder syndrome and CDP in a multidisciplinary setting. METHODS: The notes and radiographs of the patients managed at the Australian Craniofacial Unit with a multidisciplinary setting since 1976 were reviewed, and data were collected on patient demographics, associated medical and surgical problems, subsequent management, and complications. RESULTS: Seventy-seven patients were treated over the 30-year period (5 patients were lost to follow-up); of the remaining 72 patients, 60 (83%) had Binder syndrome, and 12 (17%) were patients with CDP. Forty were males, and 32 were females, with an age range of 6 months to 47 years. Thirteen patients (18%) had a strong family history, and 65 patients (90%) have so far undergone surgical correction, and of those, 35 (54%) have completed their treatment, the longest follow-up time being 18 years. The mean number of surgical procedures was 2.4, and 18 patients (28%) had postoperative complications, which included partial necrosis of the maxilla, osteomyelitis of the mandible, facial nerve and inferior alveolar nerve neuropraxia, nasal bone graft exposure, and cellulitis. DISCUSSION: Because of the phenotypic characteristics shared by both Binder syndrome and CDP, it is most likely that Binder syndrome is not a syndrome, nor is it an entity, but most likely to be an "association." We would advocate that these patients should be managed in a multidisciplinary setting.

A new syndrome with craniosynostosis and cleft lip and palate.

Two unrelated girls with craniosynostosis and bilateral cleft lip and palate who also had developmental delay and umbilical herniae are presented. We propose that these patients have the same condition, and that their combination of features may constitute a new syndrome. Management of the patients is discussed.

Spectrum of Antley-Bixler syndrome.

Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen within ABS, and other features include midface hypoplasia; choanal stenosis or atresia; multiple joint contractures; visceral anomalies, particularly of the genitourinary system; and impaired steroidogenesis. The condition of ABS is curious in that mutations of 2 separate genes have been identified and that there seem to be subtle phenotypic differences between the 2 genotypes. Mutations of the P450 oxidoreductase gene have been reported in those patients with genital anomalies and/or impaired steroidogenesis, and the S351C mutation of the fibroblast growth factor receptor 2 gene has been reported predominantly in those patients with normal genitalia and steroidogenesis. We report a series of 4 patients with ABS and review their main findings and management.

Temperature course after transcranial surgery for Apert syndrome: a possible indicator for postoperative complication.

BACKGROUND: Pyrexia after surgical procedure is a commonly observed phenomenon. However, it is not easy to distinguish pyrexia related to a postoperative complication from the normal temperature increase after surgery. The aims of this study were to establish a normal template for postoperative temperature course after transcranial surgery in patients with Apert syndrome and to investigate the correlation between the pattern of temperature increase and etiological factors. METHODS: Seventy-seven sequential case notes of patients with Apert syndrome were retrospectively reviewed to collect postoperative temperature courses. The mean change of temperature was plotted on a graph with trend line to compare the feature of the course in each possible factor. A separate group of those who underwent fronto-orbital advancement was independently evaluated. RESULTS: The temperature course had a bimodal distribution during the first 48 hours. However, those who underwent longer surgery, fronto-facial advancement, or those accompanied by complication seemed to have the more obvious third temperature peak around 50 hours postoperatively. This finding was also true in the independent fronto-orbital advancement group. Temperature courses without postoperative complication seemed to have bimodal distribution of temperature course; on the other hand, those with postoperative complication seemed to have the obvious third temperature peak around postoperative 50 hours. CONCLUSIONS: Together with our previous study, it was concluded that pyrexia after transcranial surgery had a bimodal distribution as a normal course within the first 48 hours postoperatively. Moreover, it was suggested that the third temperature peak around 50 hours postoperatively could be an indicator for a postoperative complication.

Treacher Collins syndrome: protocol management from birth to maturity.

BACKGROUND: : Management of patients with Treacher Collins syndrome is complicated and involves multiple disciplines working in concert to achieve a common outcome. This article reviews the experience at the Australian Craniofacial Unit and describes the protocol for management. METHODS: : Fifty patients were treated during the last 30 years. The records of these patients were reviewed to establish what interventions they required and how these fit into a protocol for management. RESULTS: : The protocol for management of Treacher Collins syndrome can be divided into 3 epochs. In the first epoch from birth to age 2, airway and feeding problems were the main focus. Four patients required tracheostomy. Of these, 1 died and the others received mandibular distraction. Hearing is evaluated and addressed early. Eleven patients (23%) required repair of a cleft palate. In the second epoch (aged 2-12 y), speech therapy is critical as is a focus on integrating into the education system. During this epoch, reconstruction of the upper face was performed either with bone grafts or with vascularized bone flaps. Both required repeat bone grafts later. In the third epoch (aged 13-18 y), orthognathic surgery was performed. Revision surgery and further bone grafting were performed again at around age 18. Patients reported being generally happy with their appearance and with few exceptions were able to complete education, gain employment, and feel socially accepted. CONCLUSIONS: : Management of patients with Treacher Collins syndrome should be through a multidisciplinary protocol to achieve good results while minimizing confusion and unnecessary surgery.

Modified transoral approach for resection of skull base chordomas in children.

PURPOSE: Chordomas are rare slow growing, locally destructive tumours originating from remnants of the primitive notocord and are found most commonly in the clivus and saccrococcygeal region. These tumours usually present in early adult life but on occasion can present in childhood. The combination of the skull base location and paediatric patient size makes access to these tumours particularly challenging. METHODS AND RESULTS: We report a multidisciplinary technique used in two cases in children where a modified extended palatal split was undertaken to allow greater access for tumour excision. CONCLUSION: This approach allows for good access to the skull base region to allow for maximal tumour resection. This technique also appears to have minimal impact on palatal function and no adverse effects on the upper airway management.

Intellectual outcomes following protocol management in Crouzon, Pfeiffer, and Muenke syndromes.

Patients with craniosynostosis syndromes are traditionally managed by a dedicated craniofacial unit. Optimal long-term management of these anomalies is unclear, but in the Australian Craniofacial Unit, it involves ongoing care by an integrated multidisciplinary team, following a protocol that commences at birth and continues until the patient reaches skeletal maturity. The Australian Craniofacial Unit has, for the last 35 years, collected a significant series of patients with these conditions who have completed management from birth to maturity.The aim of this study was to review this series of patients and assess the long-term outcomes of protocol management, focusing in particular on psychologic and social aspects.This review demonstrates that these patients can do well in society, and many achieve higher education and find full-time employment. Regular follow-up and comprehensive multidisciplinary management allows for timely identification of any problems and appropriate intervention. This then helps to maximize the overall outcome for these patients.

Pyrexia after transcranial surgery for Pfeiffer syndrome.

BACKGROUND: Previously, we have reported the pattern of temperature increase after transcranial surgery for nonsyndromic craniosynostosis. It was found that pyrexia had a bimodal distribution during the first 48 hours after surgery. AIM: The aims of this study were to evaluate pyrexia after transcranial surgery for syndromic craniosynostosis (Pfeiffer syndrome), to investigate whether the same pattern occurred, and to evaluate the correlation between pyrexia and possible factors, that is, sex, age, procedure, length of surgery, and incidence of postoperative cerebrospinal fluid (CSF) leakage. METHOD: Twenty-one sequential case notes of Pfeiffer syndrome were retrospectively reviewed to collect 38 postoperative temperature courses. The mean change of temperature was plotted on a graph with a trend line to find the feature of the course. RESULTS: Pyrexia after transcranial surgery for Pfeiffer syndrome had a bimodal distribution during the first 48 hours, similar to the pyrexia after transcranial surgery for nonsyndromic craniosynostosis. This pyrexia was higher and more prolonged in those undergoing a longer surgical procedure and frontofacial advancement and procedures accompanied with postoperative CSF leakage. Moreover, the temperature course was more complex in procedures accompanied with postoperative CSF leakage. CONCLUSIONS: It was concluded that in Pfeiffer syndrome, which has more complicated pathologic status than nonsyndromic craniosynostosis, also had bimodal postoperative temperature course. Although the etiology of the bimodal pyrexia remains unclear, it seems that it is part of the normal postoperative course in these cases. However, prolonged raised temperature within the first 48 postoperative hours may suggest a complication.