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Early and precise diagnosis of craniosynostosis (CSO), which involves premature fusion of cranial sutures in infants, is crucial for effective treatment. Although computed topography offers detailed imaging, its high radiation poses risks, especially to children. Therefore, we propose a deep-learning model for CSO and suture-line classification using 2D cranial X-rays that minimises radiation-exposure risks and offers reliable diagnoses. We used data comprising 1,047 normal and 277 CSO cases from 2006 to 2023. Our approach integrates X-ray-marker removal, head-pose standardisation, skull-cropping, and fine-tuning modules for CSO and suture-line classification using convolution neural networks (CNNs). It enhances the diagnostic accuracy and efficiency of identifying CSO from X-ray images, offering a promising alternative to traditional methods. Four CNN backbones exhibited robust performance, with F1-scores exceeding 0.96 and sensitivity and specificity exceeding 0.9, proving the potential for clinical applications. Additionally, preprocessing strategies further enhanced the accuracy, demonstrating the highest F1-scores, precision, and specificity. A qualitative analysis using gradient-weighted class activation mapping illustrated the focal points of the models. Furthermore, the suture-line classification model distinguishes five suture lines with an accuracy of > 0.9. Thus, the proposed approach can significantly reduce the time and labour required for CSO diagnosis, streamlining its management in clinical settings., (© 2024. The Author(s).)

Apert (AS), Crouzon (CS), Muenke (MS), Pfeiffer (PS), and Saethre Chotzen (SCS) are among the most frequently diagnosed syndromic craniosynostoses. The aims of this study were (1) to train an innovative model using artificial intelligence (AI)-based methods on two-dimensional facial frontal, lateral, and external ear photographs to assist diagnosis for syndromic craniosynostoses vs controls, and (2) to screen for genotype/phenotype correlations in AS, CS, and PS. We included retrospectively and prospectively, from 1979 to 2023, all frontal and lateral pictures of patients genetically diagnosed with AS, CS, MS, PS and SCS syndromes. After a deep learning-based preprocessing, we extracted geometric and textural features and used XGboost (eXtreme Gradient Boosting) to classify patients. The model was tested on an independent international validation set of genetically confirmed patients and non-syndromic controls. Between 1979 and 2023, we included 2228 frontal and lateral facial photographs corresponding to 541 patients. In all, 70.2% [0.593-0.797] (p < 0.001) of patients in the validation set were correctly diagnosed. Genotypes linked to a splice donor site of FGFR2 in Crouzon-Pfeiffer syndrome (CPS) caused a milder phenotype in CPS. Here we report a new method for the automatic detection of syndromic craniosynostoses using AI., Competing Interests: Declaration of competing interest The authors have no conflicts of interest relevant to this article to disclose., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Clinical diagnosis of craniofacial anomalies requires expert knowledge. Recent studies have shown that artificial intelligence (AI) based facial analysis can match the diagnostic capabilities of expert clinicians in syndrome identification. In general, these systems use 2D images and analyse texture and colour. They are powerful tools for photographic analysis but are not suitable for use with medical imaging modalities such as ultrasound, MRI or CT, and are unable to take shape information into consideration when making a diagnostic prediction. 3D morphable models (3DMMs), and their recently proposed successors, mesh autoencoders, analyse surface topography rather than texture enabling analysis from photography and all common medical imaging modalities and present an alternative to image-based analysis. We present a craniofacial analysis framework for syndrome identification using Convolutional Mesh Autoencoders (CMAs). The models were trained using 3D photographs of the general population (LSFM and LYHM), computed tomography data (CT) scans from healthy infants and patients with 3 genetically distinct craniofacial syndromes (Muenke, Crouzon, Apert). Machine diagnosis outperformed expert clinical diagnosis with an accuracy of 99.98%, sensitivity of 99.95% and specificity of 100%. The diagnostic precision of this technique supports its potential inclusion in clinical decision support systems. Its reliance on 3D topography characterisation make it suitable for AI assisted diagnosis in medical imaging as well as photographic analysis in the clinical setting., (© 2022. The Author(s).)

Background: The aim of this study is to identify if certain types of craniosynostosis and/or surgical procedures are more likely to require a secondary intracranial procedure because of insufficient correction of skull shape or raised ICP after initial surgery., Methods: All consecutive cases with craniosynostosis that were operated at our center between January 2010 and January 2019 were included and the number of secondary operations of the vault were determined, as well as diagnosis, the indication and type and timing of initial surgery. Monobloc and facial bipartition procedures were excluded., Results: Over a nine year period, 790 vault corrections were performed in 780 patients of which 38 procedures were reoperations in 35 patient because of raised intracranial pressure or an insufficient esthetic result of the skull shape. Particularly patients with a multisutural or syndromic craniosynostosis are represented in this group, as well as three surgical procedures: 1. biparietal outfracturing for sagittal synostosis; 2. endoscopic stripcraniectomy with helmet therapy for unicoronal, multisutural or syndromic craniosynostosis; 3. conventional occipital expansion for syndromic craniosynostosis., Conclusions: The risk of a second intracranial correction for insufficient outcome of skull shape or for raised ICP is related to type of synostosis and type of initial surgical technique. Particularly multisutural and syndromic craniosynostosis are more likely to require repeat surgery for these indications. Concerning initial technique, biparietal outfracturing does not correct sagittal synostosis sufficiently, stripcraniectomy with helmet therapy appears to undercorrect unicoronal, multisutural and syndromic synostosis, and conventional occipital expansion for multisutural and syndromic synostosis has poorer outcome than occipital expansion with distraction., Competing Interests: Declaration of Competing Interest The authors have no conflicts of interest and received no funding for this study., (Copyright © 2020. Published by Elsevier Ltd.)

Pediatric care providers, pediatricians, pediatric subspecialty physicians, and other health care providers should be able to recognize children with abnormal head shapes that occur as a result of both synostotic and deformational processes. The purpose of this clinical report is to review the characteristic head shape changes, as well as secondary craniofacial characteristics, that occur in the setting of the various primary craniosynostoses and deformations. As an introduction, the physiology and genetics of skull growth as well as the pathophysiology underlying craniosynostosis are reviewed. This is followed by a description of each type of primary craniosynostosis (metopic, unicoronal, bicoronal, sagittal, lambdoid, and frontosphenoidal) and their resultant head shape changes, with an emphasis on differentiating conditions that require surgical correction from those (bathrocephaly, deformational plagiocephaly/brachycephaly, and neonatal intensive care unit-associated skill deformation, known as NICUcephaly) that do not. The report ends with a brief discussion of microcephaly as it relates to craniosynostosis as well as fontanelle closure. The intent is to improve pediatric care providers' recognition and timely referral for craniosynostosis and their differentiation of synostotic from deformational and other nonoperative head shape changes., Competing Interests: This document is copyrighted and is property of the American Academy of Pediatrics and its Board of Directors. All authors have filed conflict of interest statements with the American Academy of Pediatrics. Any conflicts have been resolved through a process approved by the Board of Directors. The American Academy of Pediatrics has neither solicited nor accepted any commercial involvement in the development of the content of this publication. POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose., (Copyright © 2020 by the American Academy of Pediatrics.)

The aim of this study was to identify quantitative tools to classify the severity of trigonocephaly to guide surgical management and predict outcome., Methods: We reviewed high-resolution computed tomography images of 59 patients with metopic synostosis. We assessed the craniofacial sutural pattern as well as interfrontal and metopic angles, and we related the frontal angulation degree with the sutural pattern, the surgical management, and clinical outcome., Results: We identified 3 groups according to the severity of trigonocephaly. No difference was found between the sutural pattern of nasion complex and severity, whereas the closure of zygomatic maxillary sutures increased with the severity degree (P < 0.05). The operative management was related to the severity degree (P < 0.001) and to the reduced age (P = 0.009)., Conclusions: Interfrontal and metopic angles are complementary measurements to evaluate with high accuracy the degree of frontal angulation. In preoperative assessment, they may guide surgery decision in particular when the choice is not straightforward.

Purpose: This study aimed to develop a novel approach to assess the severity of skull dysmorphology in infants with isolated sagittal synostosis (ISS) and its relationship with the surgical results., Methods: We divided 66 infants with ISS into three groups by combining the scaphocephalic (SSI-A) and platycephalic (VLI) indices as descriptors of the relation between length, width, and height. We evaluated each skull for morphology as hyperdolichocephalic (< 66%) versus dolichocephalic (66-77%) and as hyperplatycephalic (< 78%) versus platycephalic skull (78-85%). A score system was developed as follows: 2 points for values < 66% and < 78% and 1 point for values between 66 and 77% and 78 and 85% in SSI-A and VLI, respectively. The overall score was calculated and it was used to classify our patients on a 4-point ordinal scale, according to the severity of head shape (2 = mild, 3 = moderate, 4 = severe)., Results: Thirty-two infants resulted in mild group, 17 in moderate group, and 17 in severe group. SSI-A and VLI were reduced according to the severity of ISS. We demonstrated a positive correlation between SSA-A and VLI in mild subgroup of patients while we found a negative correlation between SSA-A and VLI in moderate and in severe subgroups. Moreover, a positive correlation was found between severe subgroup and Sloan III class of surgical results., Conclusion: This study describes a simple tool to better classify infants with ISS, considering the three-dimensional morphology of the skull, because it evaluates both the dolichocephalic and platycephalic component.

At the end of craniofacial growth, in anterior synostotic plagiocephaly, some aesthetical deficiencies may still be evident. This can depend on an inadequate initial correction or on altered postoperative growth or even on the combination of the 2 factors.Aesthetic alterations can result from various factors that could potentially affect the skeleton, the skin, subcutaneous, and muscular tissues.The pathological changes in the cutaneous and subcutaneous tissues are greater in patients who have undergone multiple surgical treatments of the frontoorbital area. The aim of this observational cohort study is to assess the residual aesthetic and functional impairment at the end of skeletal growth, in patients affected by anterior synostotic plagiocephaly who have undergone surgery at an early age. The purpose is to investigate whether early surgery can still be considered unavoidable in patients with this malformation.Between July 2012 and February 2015, patient's data were retrieved from our archives among the patients referred to our department from 2003 to 2012 for Anterior Synostotic Plagiocephaly at an early age.The authors studied this patient with CT scans and photographic documentation. On CT scans, the authors have assessed skeletal alterations, soft tissues alterations, and muscular tissue alterations. With photographic documentation, the authors have studied the perception of the malformation among external subjects.From this study it was possible to demonstrate that is many esthetical alterations are to still to be found in patients treated with an early surgical approach; for this reason in children without early complications, the authors suggest that surgical treatment should be delayed after the end of craniofacial growth.

Craniosynostosis is a developmental craniofacial anomaly, resulting in impairment of brain development and abnormally shaped skull. The main cause of craniosynostosis is premature closure of one or more cranial sutures. It usually occurs as an isolated condition, but may also be associated with other malformations as part of complex syndromes. When left untreated, craniosynostosis can cause serious complications, such as developmental delay, facial abnormality, sensory, respiratory and neurological dysfunction, anomalies affecting the eye, and psychological disturbances. Thus, early diagnosis, expert surgical techniques, postoperative care, and adequate follow-up are of vital importance in treating craniosynostosis.

Craniosynostosis (occurrence: 1/2500 live births) is a result of premature fusion of cranial sutures, leading to alterations of the pattern of cranial growth, resulting in abnormal shape of the head and dysmorphic facial features. In approximately 85% of cases, the disease is isolated and nonsyndromic and mainly involves only one suture. Syndromic craniosynostoses such as Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes not only affect multiple sutures, but are also associated with the presence of additional clinical symptoms, including hand and feet malformations, skeletal and cardiac defects, developmental delay, and others. The etiology of craniosynostoses may involve genetic (also somatic mosaicism and regulatory mutations) and epigenetic factors, as well as environmental factors. According to the published data, chromosomal aberrations, mostly submicroscopic ones, account for about 6.7-40% of cases of syndromic craniosynostoses presenting with premature fusion of metopic or sagittal sutures. The best characterized is the deletion or translocation of the 7p21 region containing the TWIST1 gene. The deletions of 9p22 or 11q23-qter (Jacobsen syndrome) are both associated with trigonocephaly. The genes related to the pathogenesis of the craniosynostoses itself are those encoding transcription factors, e.g., TWIST1, MSX2, EN1, and ZIC1, and proteins involved in osteogenic proliferation, differentiation, and homeostasis, such as FGFR1, FGFR2, RUNX2, POR, and many others. In this review, we present the clinical and molecular features of selected craniosynostosis syndromes, genotype-phenotype correlation, family genetic counseling, and propose the most appropriate diagnostic algorithm.

Purpose: "Secondary craniosynostosis" (SCS) refers to a loss of sutures after corrective vault reconstruction. There are no prior studies that comprehensively review SCS in various types of non-syndromic craniosynostosis. We assessed idiopathic and iatrogenic SCS using 3-dimensional computed tomography (3D CT). We also performed a systematic review to estimate the overall incidence of SCS in each craniosynostosis type, and to characterize its clinical features., Materials and Methods: We retrospectively reviewed the CT images of patients who underwent surgical correction of craniosynostosis for all types of craniosynostosis between August 1999 and December 2015. A literature search of the Medline and Ovid databases was conducted in October 2016 using the search term "secondary craniosynostosis.", Results: In our series, iatrogenic SCS was observed in all patients who had manipulated normal patent sutures to variable extents. Three (17.6%) cases of idiopathic SCS developed on sagittal sutures, and were confirmed with a 12-month follow-up CT. In a pooled analysis of 10 articles, overall SCS developed in 123 of 1205 patients (10.2%). Iatrogenic SCS cases made up 87 of 1205 cases (7.2%), whereas 38 (3.1%) were idiopathic. Idiopathic SCS most commonly developed at the bi-coronal suture (n = 32, 84.2%), followed by the sagittal suture (n = 4, 10.5%) and uni-coronal suture (n = 1, 2.6%)., Conclusion: This is the first review not only to describe SCS in all types of non-syndromic craniosynostosis, but also to classify SCS into iatrogenic and idiopathic types based on the underlying pathogenesis., (Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

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.

Hypophosphatasia (HPP) when diagnosed at a young age may induce premature fusion of one or several cranial sutures, resulting in a craniocerebral disproportion. The main forms of craniosynostosis associated with HPP are loss of the sagittal suture (scaphocephaly), alone or associated with loss of the coronal sutures (oxycephaly) or associated with loss of the coronal and lambdoid sutures (pansynostosis). Craniosynostosis is accompanied by putatively functional consequences. Diagnosis must thus be early and lead to management by a specialized team., (© 2017 Elsevier Masson SAS. All rights reserved.)

In a continuation of a prospective longitudinal cohort study in a healthy population on the course of skull shape from birth to 24 months, at 5 years of age, 248 children participated in a follow-up assessment using plagiocephalometry (ODDI-oblique diameter difference index, CPI-cranio proportional index). Data from the original study sampled at birth, 7 weeks, 6, 12, and 24 months were used in two linear mixed models., Main Findings: (1) if deformational plagiocephaly (ODDI <104%) and/or positional preference at 7 weeks of age are absent, normal skull shape can be predicted at 5 years of age; (2) if positional preference occurs, ODDI is the highest at 7 weeks and decreases to a stable lowest value at 2 and 5 years of age; and (3) regarding brachycephaly, all children showed the highest CPI at 6 months of age with a gradual decrease over time., Conclusion: The course of skull deformation is favourable in most of the children in The Netherlands; at 5 years of age, brachycephaly is within the normal range for all children, whereas the severity of plagiocephaly is within the normal range in 80%, within the mild range in 19%, and within the moderate/severe range in 1%. Medical consumption may be reduced by providing early tailored counselling. What is Known: • Skull deformation prevalence increased after recommendations against Sudden Infant Death Syndrome, little is known about the longitudinal course. • Paediatric physical therapy intervention between 2 and 6 months of age reduces deformational plagiocephaly at 6 and 12 months of age. What is New: • The course of skull deformation is favourable in most of the children in The Netherlands; at 5 years of age, deformational brachycephaly is within the normal range for all children, whereas the severity of deformational plagiocephaly is within the normal range in 80%, within the mild range in 19%, and within the moderate to severe range in only 1%. • Paediatric physical therapy intervention does not influence the long-term outcome; it only influences the earlier decrease of the severity of deformational plagiocephaly., Competing Interests: Compliance with ethical standards All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. The Medical Ethics Committees of the University Medical Center Utrecht, The Netherlands (initial part of the study 0–24 months), of the Radboud University Medical Center Nijmegen, The Netherlands (5-year assessments) and of the Bernhoven Hospital Veghel (all assessments), The Netherlands, gave ethical approval. Written informed consent was obtained from all parents of the children in the cohort. Funding This study was made possible by a grant BU002/10 from the Scientific Committee of The Royal Dutch Association for Physiotherapy, Amersfoort, The Netherlands. There was independence of researchers from funders. Conflict of interest The authors declare that they have no conflicts of interest. The authors have indicated they have no financial relationships relevant to this article to disclose.

This article provides an overview of etiology, epidemiology, pathology, diagnosis, and treatment of nonsyndromic craniosynostosis, including sagittal, metopic, coronal, lambdoid, and complex synostosis. Detailed discussion is presented regarding indications for surgical intervention and management options, including frontoorbital advancement, cranial vault reconstruction, endoscopic strip craniectomy, spring-assisted strip craniectomy, and cranial vault distraction osteogenesis. Deformational plagiocephaly is also presented with treatment options including repositioning, physical therapy, and helmet therapy., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Background: The authors' purpose is to present changes in anthropometric fronto-orbital dimensions after surgical correction of metopic synostosis., Methods: The authors retrospectively analyzed craniometric dimensions in older patients with metopic synostosis corrected by fronto-orbital advancement performed by the senior author (J.B.M.). Preoperative and postoperative linear measures (frontal breadth, cranial width, and intercanthal distance) were taken by direct anthropometry. Interdacryon distance and width of the bandeau were also recorded intraoperatively, before and after widening. Follow-up anthropometric values were compared to age- and sex-matched normative data and standard (z) scores were calculated., Results: Sixteen patients met the inclusion criteria. Syndromic diagnosis was documented in five of 16 patients. Average age at the last postoperative evaluation was 8.9 ± 3.8 years (range, 4 to 16 years). Mean frontal width z-scores decreased postoperatively from 0.82 to -0.32 (p = 0.007), indicating diminished growth in this dimension. The last measured frontal width strongly correlated with the breadth of the bandeau after surgical correction but not with preoperative values. Postoperative mean cranial width diminished significantly to a more normal value. Mean intercanthal distance was normal preoperatively and remained so but was significantly greater in syndromic than in nonsyndromic cases., Conclusions: Frontal growth rate is diminished in the coronal plane after fronto-orbital advancement. The authors recommend primary techniques to overcorrect the width of the bandeau and frontal region, including zygomaticosphenoid osteotomies and interpositional cranial bone grafts to advance/widen the lateral orbital rim. Continued evaluation is required to assess whether overcorrection results in normal frontotemporal shape and breadth at skeletal maturity., Competing Interests: Dr. Patel is a consultant for Stryker CMF. The other authors have no conflicts of interest to report.

Many procedures exist for treatment of craniosynostosis. The goal of all surgical interventions is to correct the skull deformities associated with the synostosis and to prevent the sequela of elevated intracranial pressure. Open cranial vault reconstructions address these issues at the time of surgery, but have the potential for increased blood loss and longer hospital stays. Minimally invasive procedures have shorter operative times and decreased blood loss, but rely on the cranial abnormality to improve over time with helmets or distraction devices. Prolonged follow-up is necessary to monitor long-term cosmetic outcomes and evaluate for signs of increasing intracranial pressure., (Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.)

Background: In the craniofacial surgery literature, there is a wide disparity of opinions regarding the management of nonsyndromic metopic synostosis. With the lack of level I evidence to support a particular regimen, we aimed to elucidate the current state of practice among craniofacial surgeons with the hope of establishing a standard of care., Methods: A survey was sent to 102 craniofacial surgeons. The survey featured 2 parts: clinical scenarios and questions regarding the following: primary indication for surgery, preference of timing, and choice of operative intervention for patients presenting with nonsyndromic isolated metopic synostosis. Surgeons were also queried regarding preoperative, intraoperative, and postoperative protocols., Results: The total response rate was 72% (73/102) for the clinical scenarios and 63% (64/102) for the complete survey. There was a large discrepancy when classifying and managing mild metopic synostosis, with between 16% and 35% of surgeons electing to operate on a mild case. All surgeons agreed to operate on moderate and severe cases. For 95% of respondents, skull deformity was the primary indication for treatment of craniosynostosis. Open surgical management was most commonly performed at 6 months (29%) of age. Open frontal orbital advancement was the most commonly performed procedure in mild (27%), moderate (77%), and severe (89%) cases. Endoscopic approaches were more likely to be used in milder cases by 19% of surgeons., Conclusion: Our survey demonstrates that there is a wide disparity of opinion among craniofacial surgeons regarding the diagnosis and management of mild nonsyndromic metopic synostosis., Level of Evidence: Diagnostic, level 5.

Background: New forms and varieties of craniosynostoses are continuously identified due to the current increased interest of clinicians and genetists especially since the introduction of microarray-based comparative genomic hybridization (Array-CGH) techniques in the diagnostic setting of patients with craniofacial anomalies., Methods: In this report, we describe the case of an infant who associated the early fusion of the metopic and both the coronal sutures. The interaction of the early fusion of the anterior group of the main cranial sutures gave the infant a particular clinical phenotypes with a Y configuration of the frontal bone and a globally reduced size of the skull. Such a deformity was observed in utero and was subsequently confirmed by the postnatal imaging of the head., Results: This phenotype was never described previously in antenatal period to our knowledge. The array-CGH showed a heterozygous 9.0 Mb deletion in the chromosomal region 7p21.1p21.3 encompassing approximately 25 other genes, spanning from THSD7A to TWIST1/FERD3L., Conclusion: This case further illustrates the variability of the clinical spectrum of craniofacial disorders associated with TWIST1 abnormalities. It is important to note that the Saethre-Chotzen syndrome caused by microdeletion is generally characterized by a mental disability. However, of interest, the postoperative psychomotor development of the child considered hereby was within the normal limits., (© 2015 Wiley Periodicals, Inc.)

Purpose: Provide outcome data for open cranial vault reshaping at a single institution by a single craniofacial surgeon treating 100 patients., Methods and Subjects: A total of 100 patient records were reviewed. Criteria for selection included patients less than three years of age undergoing primary surgery with open cranial vault reshaping and a minimum follow up time of 2 years., Results: Of the 100 patients (27 female, 73 male) treated 6 were syndromic and 94 nonsyndromic. Average age and weight were 8.9 months and 9.51 kg, respectively. The oldest child was 30 months and the youngest 5 months at the time of surgery. The estimated blood volume lost was 42.7% of total calculated blood volume ranging from 16.6% to 336%. Average surgical time was 216.7 min. Complications included 2 hematomas, 2 wound infections, 1 subgaleal abscess, 6 dural tears, 3 patients requiring reoperation for residual deformity, 4 cases requiring coronal scar revision, 1 sagittal sinus bleed, and 1 intraoperative death., Conclusions: Our review of 100 open repairs of patients with craniosynostosis demonstrates good long-term results with an overall low complication rate. The outcome data will assist in developing future prospective studies aimed at improving the multidisciplinary care of these patients., (Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

Aim: This study analyses pathomorphological and physiological head shapes and classifies the pathomorphology in positional plagiocephaly and brachycephaly., Patients and Methods: 78 infants with a positional plagiocephaly (5.99 months) and 32 infants with a positional brachycephaly (6.53 months) with a Cephalic index > 94% were investigated in this study and compared to a matched control group of 35 infants. The head shapes were analysed by stereophotogrammetry 3D data., Results: The cephalic index, the total width, and coronal circumference were the highest values in patients with brachycephaly and the lowest values in the control group. The asymmetry of the head showed that the diagonal difference in brachycephalic patients more than doubled, and in patients with plagiocephaly almost tripled compared to the controls. A significantly higher total volume and vertex height was found for the patients with plagiocephaly and the patients with brachycephaly compared to the controls., Conclusion: The cephalic index is a valuable and reliable parameter in order to differentiate positional deformities from unaffected skulls. Pathomorphology of a plagiocephaly is associated with the most severe asymmetry of the head. Plagiocephaly and brachycephaly overlap in several criteria. Therefore it seems justified to speak of a continuum rather than to differentiate between plagiocephaly and brachycephaly., (Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

In pediatric neurosurgery departments in India, craniosynostosis is being increasingly identified and dealt with during the past several years. The management of this problem is well established in units that have a strong pediatric bias, whereas it is still in infancy in certain departments. Some misconceptions exist regarding this condition with reference to clinical, genetic aspects and management-in particular, the surgical indications. The experience gained for more than 2 decades of treating this condition as well as the problems faced in the management of this condition will be discussed. Although the terms craniostenosis and craniosynostosis do not mean quite the same thing, the terms are used interchangeably and will be done so in this communication.

Introduction: Focal pressure-related changes in brain perfusion and metabolism are discussed in single-suture craniosynostosis and brachycephalic cases (bicoronal synostosis). Raised intracranial pressure levels could be measured in some cases. In order to find possible loco-regional brain tissue changes during plastic surgery, we investigated oxygenation and perfusion parameters using non-invasive near-infrared spectroscopy (NIRS) probes., Methods: Twenty-two consecutively operated cases (mean age 7 months) with single-suture craniosynostosis were prospectively investigated using a NIRS probe (LEA(©), O2C, white light 500-800 nm, laser NIR). Measurements for oxygen saturation (SO(2)), relative quantity of hemoglobin (rHb), blood flow, and blood flow velocity of the bilateral frontal, temporal, and parietal cortices were taken transosseously (prior to decompression) and epidurally directly after decompression as well as 15 and 30 min after decompression and before closure., Results: Twenty-two patients with scaphocephaly (11), trigonocephaly (6), anterior plagiocephaly (3), and brachycephaly (2) were investigated. SO(2) was improving in all patient subgroups, showing the highest levels in the fronto-temporal region; rHb improved in scaphocephalic, trigonocephalic, and brachycephalic children. Again, the highest values were found not only in the temporal but also in the frontal region and in brachycephalic patients also in the parietal cortex., Conclusion: These preliminary results of a new technology for brain tissue oxygenation and blood flow measurements suggest a regional compromise of cortical metabolism and circulation in patients with craniosynostosis.

Perioperative assessment of craniosynostosis is based mostly on subjective scores. In this study, we sought to find an objective method to assess cranial deformation based on normative craniofacial percentiles. Anthropometric datasets from 104 (79 males, 25 females) patients with craniosynostoses were included. Anthropometric data were compared with normative age-dependent percentiles. Deviations above the 90th or below the 10th percentile were defined as significant cranial deformation. The cohort comprised 69 children with sagittal, 22 metopic, nine coronal, two bicoronal, one lambdoid, and one with coronal + lambdoid craniosynostosis. Most children with sagittal synostosis were above the 90th percentile for cranial circumference and length, whereas only 27.9% were below the 10th percentile for cranial width. Most (83%) children with scaphocephaly had cranial indices below the 10th percentile. For trigonocephaly, we found normal cranial circumference values in most patients (10th-90th percentile), 40.9% were above the 90th percentile for cranial length, and 63.1% and 57.9% were above the 90th percentiles for sagittal and transverse circumferences. For unicoronal synostosis transverse circumference was above the 90th percentile in 83.3% of children. Matching of anthropometric data of craniosynostosis patients with craniofacial norms could be useful in grading the clinical picture and potentially adapting the operative procedure., (Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

Craniosynostosis, both isolated and syndromic, are challenging malformations for the craniofacial team. They present the team with an articulated cascade of choices, which need to be addressed early in life and in the growing age to intercept, remove, or correct the direct and indirect consequences of the malformation. Timing of treatment is thus critical and it stands on the experience of a multi-specialty trained craniofacial team. In this paper the authors discuss the timing of treatment of the major craniosynostosis, isolated and syndromic, reviewing the options for treatment and their experience in this complex field., (Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

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.

We present a technique for the computational analysis of craniosynostosis from CT images. Our fully automatic methodology uses a statistical shape model to produce diagnostic features tailored to the anatomy of the subject. We propose a computational anatomy approach for measuring shape abnormality in terms of the closest case from a multi-atlas of normal cases. Although other authors have tackled malformation characterization for craniosynostosis in the past, our approach involves several novel contributions (automatic labeling of cranial regions via graph cuts, identification of the closest morphology to a subject using a multi-atlas of normal anatomy, detection of suture fusion, registration using masked regions and diagnosis via classification using quantitative measures of local shape and malformation). Using our automatic technique we obtained for each subject an index of cranial suture fusion, and deformation and curvature discrepancy averages across five cranial bones and six suture regions. Significant differences between normal and craniosynostotic cases were obtained using these characteristics. Machine learning achieved a 92.7% sensitivity and 98.9% specificity for diagnosing craniosynostosis automatically, values comparable to those achieved by trained radiologists. The probability of correctly classifying a new subject is 95.7%., (Copyright © 2014 Elsevier B.V. All rights reserved.)

Purpose: Craniosynostosis is a common cranial malformation occurring in 1 per 2,000-2,500 births. Isolated defects (nonsyndromic) occur in ~75% of cases and are thought to have multifactorial etiology. It is believed that each suture synostosis is a distinct disease, with varying phenotypes and recurrence rates., Methods: We analyzed family histories of 660 mutation-negative nonsyndromic craniosynostosis patients and symptoms in 189 of these patients., Results: The incidence rate of craniosynostosis was highest for first-degree relatives of probands with metopic craniosynostosis (6.4%), followed by those with complex craniosynostosis (4.9%), sagittal craniosynostosis (3.8%), lambdoid craniosynostosis (3.9%), and coronal craniosynostosis (0.7%). Across all suture types, siblings had a greater craniosynostosis incidence rate than parents (7.5 vs. 2.3%). In phenotype comparisons, patients with complex craniosynostosis had the highest frequency of reported symptoms and those with sagittal craniosynostosis had the lowest. Ear infections, palate abnormalities, and hearing problems were more common in complex craniosynostosis patients. Visual problems were more common in coronal craniosynostosis, and metopic craniosynostosis patients noted increased frequency of chronic cough., Conclusion: Our data suggest that the genetic component of nonsyndromic craniosynostosis appears to be suture specific. The incidence rate of craniosynostosis among first-degree relatives varies by suture and family member. Additionally, the phenotype of each suture synostosis shows both unique and shared features.

The aetiology of scaphocephaly is often described as premature fusion of the sagittal suture. This study observed wave-like deformations in abnormally long and narrow skulls typical of scaphocephaly, and these deformations were divided into two types: type I deformations (one wave) and type II deformations (two waves). However, the pathogeneses of these deformations are unknown. Computed tomographic data sets were retrospectively analyzed from 18 patients with scaphocephaly who were admitted to the hospital between 2000-2010. Using three-dimensional reconstructions of the computed tomographic images, the relationship was analysed between the wave deformation types and the state of the sutures and fontanelles. The results demonstrate that the type of wave deformation was dependent on the location of the sagittal suture closure. Specifically, the premature closure of the posterior half of the sagittal suture caused a type I deformation, while total closure resulted in a type II deformation (p < 0.001). It is hypothesized that restricted growth of the fused suture causes billowing, which results in a waving deformation. The deformities that are often observed in sagittal synostosis can be explained more accurately.

Craniosynostosis is one of the most common craniofacial disorders encountered in clinical genetics practice, with an overall incidence of 1 in 2,500. Between 30% and 70% of syndromic craniosynostoses are caused by mutations in hotspots in the fibroblast growth factor receptor (FGFR) genes or in the TWIST1 gene with the difference in detection rates likely to be related to different study populations within craniofacial centers. Here we present results from molecular testing of an Australia and New Zealand cohort of 630 individuals with a diagnosis of craniosynostosis. Data were obtained by Sanger sequencing of FGFR1, FGFR2, and FGFR3 hotspot exons and the TWIST1 gene, as well as copy number detection of TWIST1. Of the 630 probands, there were 231 who had one of 80 distinct mutations (36%). Among the 80 mutations, 17 novel sequence variants were detected in three of the four genes screened. In addition to the proband cohort there were 96 individuals who underwent predictive or prenatal testing as part of family studies. Dysmorphic features consistent with the known FGFR1-3/TWIST1-associated syndromes were predictive for mutation detection. We also show a statistically significant association between splice site mutations in FGFR2 and a clinical diagnosis of Pfeiffer syndrome, more severe clinical phenotypes associated with FGFR2 exon 10 versus exon 8 mutations, and more frequent surgical procedures in the presence of a pathogenic mutation. Targeting gene hot spot areas for mutation analysis is a useful strategy to maximize the success of molecular diagnosis for individuals with craniosynostosis., (© 2013 Wiley Periodicals, Inc.)

Syndromic craniosynostose exhibit variable clinical and genetic heterogeneity. Many of this disorders are caused by mutations in the fibroblast growth factor receptor genes: FGFR2, FGFR3 (encoding fibroblast growth factor receptors), TWIST1 (functions as an upstream regulator of FGFRs) and EFNB1 (gene encoding fibrillin1). However recent advances in molecular genetics have led to a discover of other genes implicated in different craniosynostosis syndromes., (Copyright © 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Craniosynostosis is a complex condition, characterized by the premature fusion of one of more of the cranial sutures. They can be seen individually or as part of multisystem syndromes. This review uses computed tomography (CT) with three-dimensional reconstructions to help describe some of the types and classifications of craniosynostosis, as well as describing some of the associations and the management of craniosynostosis., (Copyright © 2012 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.)

The discovery of causal mechanisms associated with nonsyndromic craniosynostosis has proven to be a difficult task due to the complex nature of the disease. In this study, differential transcriptome correlation analysis was used to identify two molecularly distinct subtypes of nonsyndromic craniosynostosis, termed subtype A and subtype B. In addition to unique correlation structure, subtype A was also associated with high IGF pathway expression, whereas subtype B was associated with high integrin expression. To identify a pathologic link between altered gene correlation/expression and the disease state, phosphorylation assays were performed on primary osteoblast cell lines derived from cases within subtype A or subtype B, as well as on primary osteoblast cell lines with novel IGF1R variants previously reported by our lab (Cunningham ML, Horst JA, Rieder MJ, Hing AV, Stanaway IB, Park SS, Samudrala R, Speltz ML. Am J Med Genet A 155A: 91-97, 2011). Elevated IRS1 (pan-tyr) and GSK3β (ser-9) phosphorylation were observed in two novel IGF1R variants with receptor L domain mutations. In subtype A, a hypomineralization phenotype coupled with decreased phosphorylation of IRS1 (ser-312), p38 (thr-180/tyr-182), and p70S6K (thr-412) was observed. In subtype B, decreased phosphorylation of IRS1 (ser-312) as well as increased phosphorylation of Akt (ser-473), GSK3β (ser-9), IGF1R (tyr-1135/tyr-1136), JNK (thr-183/tyr-187), p70S6K (thr-412), and pRPS6 (ser-235/ser-236) was observed, thus implicating the activation of IRS1-mediated Akt signaling in potentiating craniosynostosis in this subtype. Taken together, these results suggest that despite the stimulation of different pathways, activating phosphorylation patterns for IRS1 were consistent in cell lines from both subtypes and the IGF1R variants, thus implicating a key role for IRS1 in the pathogenesis of nonsyndromic craniosynostosis.

Severity of the Harlequin deformity seen in unicoronal synostosis may be augmented when frontoparietal suture synostosis has an associated fusion of the frontosphenoidal suture or in cases of isolated frontosphenoidal synostosis. The purpose of the current study is to characterize various suture fusion patterns along the coronal ring using a modified orbital index (MOI), orbital angle (OA), and endocranial base (EB) angle.This study is a retrospective single institution cohort study. Charts were reviewed over the past 12 years; patients with isolated UCS were included. MOI, OA, and EB were used to identify 3 groups of UCS patients.Twenty-one patients were identified for inclusion in skeletal dysmorphology analysis using MOI, OA, and EB measures. Frontoparietal synostosis patients were diagnosed at significantly younger ages than frontoparietal + frontosphenoidal patients (P = 0.0001). Ipsilateral MOI measures were more severe for frontoparietal patients compared with frontoparietal + frontosphenoidal patients (P = 0.0239). There was a trend for more severe ipsilateral OA measures in frontoparietal patients compared with frontoparietal + frontosphenoidal patients (P = 0.181).Modified orbital index, OA, and EB measurements are useful in the diagnosis of suture fusion patterns in UCS patients. Frontoparietal synostosis has more severe Harlequin deformity compared with frontoparietal + frontosphenoidal patients. Frontosphenoidal fusion coinciding with frontoparietal synostosis may blunt the severity of skeletal dysmorphology in UCS patients and be associated with a delayed diagnosis. Attention must be paid to assessing the frontosphenoidal suture to assure adequate surgical release.

Isolated fusion of the sagittal suture is usually treated before 1 year of age, but some patients present at a later age. The aim of this study was to evaluate the impact of children's age on the surgical outcome. The authors investigated 46 patients with isolated nonsyndromic sagittal craniosynostosis limited to the anterior two-thirds of the cranial vault. All patients underwent subtotal cranial vault remodelling, 36 patients (78.3%) before the age of 12 months (mean 8.92 months) and 10 patients after the age of 12 months (mean 15.77 months). Perioperative parameters and measurements of the cephalic index, preoperatively and postoperatively, were evaluated. All 46 patients showed improved head shape independent of their age. In patients younger than 12 months, mean cephalic indices improved from 65.99 to 74.49 (p<0.0001) and in patients older than 12 months from 66.38 to 74.38 (p<0.0004). There were no statistical differences in perioperative parameters including length of surgery, intraoperative blood loss and duration of hospital stay. In this study, patients showed no significant differences in surgical outcome that could have been related to the age at surgery. Surgical treatment should be performed early enough to benefit from the remodelling potential of the skull., (Copyright © 2012 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.)

Recent studies in Europe and the United States report increased incidence of metopic synostosis. Whether a similar trend had occurred in Australia remains unknown. This research aimed to determine changes in incidence and subtypes of craniosynostosis in Victoria and to identify perinatal risk factors. A retrospective audit of patients (n = 522) presenting to the Royal Children's Hospital in Melbourne with nonsyndromic craniosynostosis from 1982 to 2008 was undertaken. Perinatal data were sourced from the Victorian Perinatal Data Collection. The changes in incidence of craniosynostosis subtypes were calculated based on Poisson regression, and risk factors for craniosynostosis and subtypes were analyzed by univariate logistic regression analysis. The prevalence of nonsyndromic craniosynostosis was 3.1 in 10,000 live births in Victoria. On average, the incidence of nonsyndromic craniosynostosis increased by 2.5% per year among Victorian live births. Over 25 years, metopic synostosis incidence significantly increased by 7.1% per year in the population of Victoria, outpacing other subtypes. The risk factors for metopic synostosis include being male, multiple births (ie, twins), preterm gestation, low birth weight, high maternal age, and emergency cesarean birth. This study revealed a true increase in incidence of metopic synostosis in Victoria, which could be a result of increased frequency of multiple births, preterm gestation, low birth weight, and high maternal age in the Victorian population from 1982 to 2008. The incidence of other nonsyndromic craniosynostoses, which include sagittal, unicoronal, and multisutural craniosynostoses, however, has remained unchanged.

Background and Purpose: Sagittal craniosynostosis (SCS) is common and easily recognized and corrected surgically. However, rare cases of SCS are more complex: these associate closure of the metopic or delayed closure of the coronal suture, uni- or bilaterally., Material and Methods: We reviewed the available literature on atypical sagittal craniosynostosis (ASCS). We also reviewed retrospectively our series of SCS treated since 1980 and selected cases with simultaneous closure of the metopic (leptocephaly) or delayed closure of other sutures (plagiocephaly, oxycephaly, or Crouzon syndrome)., Results: ASCS is rare, representing <10 % of SCS. In our series, among 447 cases of SCS followed for a mean duration of 63.7 months, we identified 22 cases of ASCS: 6 with leptocephaly, 9 with non-syndromic oxycephaly, 4 with Crouzon syndrome, and 3 with plagiocephaly. Fourteen patients required a second operation, either planned initially (severe leptocephaly) or because of brain compression. The actuarial incidence of ASCS requiring reoperation was 5.3 % of SCS at 10 years. After a mean follow-up of 113 months, morphological results in ASCS were grade 1 (no defect) in 5, grade 2 (mild defect) in 2, grade 3 (minor reoperation) in 3, and grade 4 (major reoperation) in 12; one patient had visual impairment, and two had learning difficulties., Conclusions: ACSC can be detected initially or occur with a delay in apparently standard SCS. Leptocephaly is a specific entity. Because of the implications on the management and risk for the patient, preoperative evaluation of patients with SCS with CT scanner and prolonged follow-up are necessary.

Sagittal craniosynostosis (SC) remains the most common type of synostosis, accounting for about a half of all forms. It would result from a mesenchymal disorder involving the intramembranous ossification of the sagittal suture and leading to its early fusion. No specific data on the etiologic factors are currently available. The premature ossification of the sagittal suture can result in three main types of SC, according to the different segment prevalently involved: anterior, posterior, and complete SC. The diagnosis is easily obtained by clinical examination. However, a radiological work up (3D CT scan) may be necessary to rule out hidden venous or cranial anomalies possibly associated with most severe cases, or for the surgical planning. The most common indication for surgery is the improvement of the cosmetic appearance of the skull, since a cranial deformation may have a significant psychological impact on affected subjects. To relieve from raised intracranial pressure is a further indication to surgery. Although an increased intracranial pressure can be demonstrated in a minority of affected children at diagnosis, indeed, it can present later (usually after the second/third year of life) with chronic symptoms. The role of surgery in the preservation of cognitive functions in scaphocephalic patients does not seem to be relevant, since minor anomalies of the cerebral development associated with SC would occur independently from the cranial shape. On the other hand, the surgical correction may show a protective effect on some visual skills, like the ability to fix and follow, and the fixation shift.

Background: The orbitofrontal deformity in metopic synostosis is recognized clinically but has not been quantitatively defined in a large patient population. The authors' purpose was to document the dysmorphology in metopic synostosis and define subtype gradations., Methods: Demographic and computed tomographic information was recorded. Three-dimensional computed tomographic renderings were created digitally. Craniometric analysis was conducted for endocranial bifrontal angle, interzygomaticofrontal suture and interdacryon distance, and angle of orbital aperture to the midline., Results: Thirty-five computed tomographic scans were analyzed: 25 affected infants (median age, 5 months) and 10 controls (median age, 6 months). The endocranial bifrontal angle ranged from 100 to 148 degrees in metopic patients and 134 to 160 degrees in controls. The metopic group was split into severe metopic (100 to 124 degrees) and moderate metopic (124 to 148 degrees) synostosis. The endocranial bifrontal angle was significantly different among severe metopic, moderate metopic, and control patients. Interzygomaticofrontal suture of the severe group was less than in both moderate (p = 0.0043) and control (p = 0.011) groups. Interdacryon distance was smaller in severe versus moderate (p = 0.0083) and control (p = 0.0002) groups. The orbital rim angle of the severe group was more acute than that in the moderate (p = 0.0106) and control (p = 0.0062) groups. Except for endocranial bifrontal angle, there was no difference between moderate metopic and control groups in any analysis., Conclusions: Metopic synostosis can be divided into two distinct severity indices. The severe group has significantly narrower orbitofrontal dimensions, whereas the moderate group does not differ from control. Characterization of trigonocephaly may shed light on the etiopathogenesis of disease.

No man's craniosynostosis is discussed under the following headings: historical notes, sutural development, suture closure, craniosynostotic patterns, anatomic and genetic perspectives, types of craniosynostosis, and 2 unusual types of craniosynostosis with large head circumferences.

OBJECT Combined metopic and sagittal craniosynostosis is a common variant of the nonsyndromic, multiplesuture synostoses. It is unknown whether this combined form causes reduced intracranial volume (ICV) and potentially more brain dysfunction than sagittal synostosis alone. This study is a volumetric comparison of these 2 forms of craniosynostosis. METHODS The authors conducted a retrospective chart and CT review of 36 cases of isolated sagittal synostosis or combined metopic and sagittal synostosis, involving patients seen between 1998 and 2006. Values were obtained for the intracranial compartment, brain tissue, CSF space, and ventricular volumes. Patients with craniosynostosis were then compared on these measures to 39 age- and sex-matched controls. RESULTS In patients with isolated sagittal synostosis and in those with combined metopic and sagittal synostosis, there was a trend toward smaller ICV than in controls (p < 0.1). In female patients older than 4.5 months of age, there was also a trend toward smaller ICV in patients with the combined form than in those with sagittal synostosis alone (p < 0.1), and the ICV of patients with the combined form was significantly smaller than the volume in controls in the same age group (p < 0.05). Brain tissue volume was significantly smaller in both patient groups than in controls (p < 0.05). Ventricular volume was significantly increased (compared with controls) only in the patients with isolated sagittal synostosis who were younger than 4.5 months of age (p < 0.05). Overall CSF space, however, was significantly larger in both patient groups in patients younger than 4.5 months of age (p < 0.05). CONCLUSIONS These findings raise concerns about intracranial and brain volume reduction in patients with sagittal and combined metopic and sagittal synostoses and the possibility that this volume reduction may be associated with brain dysfunction. Because the ICV reduction is greater in combined metopic and sagittal synostosis in patients older than 4.5 months of age than in sagittal synostosis in this age group, the potential for brain dysfunction may be particularly true for these younger infants.

There are no procedures available to reconstruct the normal cranial shape irrespective of the type of cranial deformity with minimal patient stress and morbidity. To achieve dynamic total skull remodeling, we considered a new remodeling concept and developed a new procedure by combining morcellation craniotomy and distraction osteogenesis, termed the MoD procedure, and designed a distraction device, namely the angle variable distraction (AVD) system. Between 2000 and 2009, we treated 41 patients with craniosynostosis (28 and 13 cases of isolated and syndromic craniosynostosis, respectively) by using the MoD procedure with the AVD system. Compared with the conventional methods, the mean operative time was significantly shorter, and the mean transfusion volume was significantly less for the MoD procedure. In all the patients, good cranial shape and adequate cranial volume were achieved without serious complications. In conclusion, the MoD procedure with the AVD system is safe, effective, and reliable for dynamic total skull remodeling with minimal morbidity. It could be used to improve the previous surgical concepts for treating craniosynostosis.

We report on an infant with tetrasomy of 5q35.2-5q35.3, an interstitial triplication on one chromosome and normal complement on the other. The patient has some features of Hunter-McAlpine syndrome including intrauterine growth retardation (IUGR), almond-shaped eyes, epicanthal folds, and downturned mouth with thin vermillion of the upper lip. In addition, left ventricular noncompaction and absent thumbs were identified, which have never been described in Hunter-McAlpine syndrome. This chromosome abnormality is distinct from those previously reported. Within this region of tetrasomy is MSX2, a highly conserved homeobox containing gene. Increased copies of MSX2 have been previously associated with craniosynostosis. Our patient's only skeletal defect is absent thumbs, also potentially related to increased dosage of MSX2 which is important for limb formation. In addition, MSX2 is expressed in the developing heart and overexpression of this gene may disrupt the co-regulation of other cardiac genes in this region, namely CSX1., (Copyright © 2011 Wiley-Liss, Inc.)

Unintentional postural deformities of the skull have increased in a pseudoepidemic manner in the last 15 years. Although dorsal decubitus and prenatal risk factors can play a role in the genesis of such deformities, we think that a crucial determinant is a postnatal defect of cervical mobility responsible for the infant's posture (ie, positional preference) when supine. Indeed, muscular factors, which limit the range of head and neck movements, have been underestimated in the genesis of skull deformities. Here, we have retrospectively analyzed data from 181 infants with unintentional skull deformities and propose a classification of these deformities into 3 types based on their pathogenic model and clinical appearance: fronto-occipital plagiocephalies due to severe muscle hypertonia in which the myogenic component is the first implicated, occipital plagiocephalies with muscle imbalance due to neurogenic muscle hypertonia, and posterior brachycephalies with neurogenic muscle hypertonia of the suboccipital muscles due to trauma to the occipitovertebral junction. Future studies on the size and density of specific muscles or group of muscles should help us to better understand their involvement in the pathogenesis of postural deformities. Our findings also highlight the importance of carefully assessing cervical mobility during the first week of life to detect possible limitations and to prescribe (if needed) an adapted rehabilitation. Rehabilitation should be associated with postural measures put in place when infants sleep supine to prevent the appearance of skull deformations.

Objective: To compare our data with recent studies that have suggested a change in the distribution of the forms of nonsyndromal synostosis in the clinical population, we conducted a retrospective analysis of the diagnoses of children with isolated synostosis examined at a large craniofacial center between 1987 and 2009. This also included the range of nonsyndromal multisuture synostoses., Design: A retrospective chart review of all preoperative patients with nonsyndromal synostosis seen between 1987 and 2009 was performed. Only patients with a radiologically confirmed craniosynostosis were included. Data on patients' sex and laterality in unilateral synostoses were collected. Two temporally distinct subgroups (1996-2000 and 2005-2009) were defined to evaluate changes in the distribution of the most common forms of isolated craniosynostosis using the Fisher exact test., Results: A total of 690 patients met the inclusion criteria. The largest group of patients had sagittal synostosis, with metopic synostosis as the second most common diagnosis, representing one-fourth of the patients, followed closely by unilateral coronal synostosis. All other synostoses encompassed one-eighth of the group. Patients with sagittal or metopic synostosis were overwhelmingly male, whereas those with unilateral coronal synostosis were predominantly female. Patients with unilateral synostoses were affected primarily at the right suture., Conclusions: Data from our patients indicate a much higher incidence of metopic synostosis than has been reported in the traditional clinical literature but is consistent with recent published data. The causes of this are unclear at this point, but the Fisher exact test excludes an increase in the frequency of metopic synostosis. Improved clinical diagnosis or ascertainment bias remains a possibility. Further research is needed to elucidate the answer to this question. Our data also indicate the occurrence of a small number of rare multisuture synostoses of unknown origin.

Cranial asymmetries due to nonsynostotic deformation of the skull have been reported with increasing frequency during the last decade. Conservative approaches using helmets and physiotherapy have been shown to be effective in their treatment. Traditionally, documentation has been carried out using anthropometric caliper measurements. The present study evaluates the use of a new three-dimensional photographic system in the improved validation of changes in head deformities. This prospective analysis introduces a new technique for digital anthropometric measurement. The study series comprised 181 children with nonsynostotic head deformities. Three-dimensional photographs were obtained before and after treatment with an orthotic helmet device. The oblique head diagonals and head width and length were measured from three-dimensional photographs using 3dMD customer software. The cranial vault asymmetry index, cranial vault asymmetry, and cranial index were compared before and after treatment. The measurements obtained on three-dimensional images were able to demonstrate significant improvement in early infant cranial deformity after treatment with an orthotic helmet. The cranial vault asymmetry index in plagiocephaly was reduced by 7.16%, and cranial vault asymmetry was reduced by 0.86 cm. The cranial index in brachycephaly decreased by 7.32%. In children with combined plagiocephaly and brachycephaly, the cranial vault asymmetry index improved by 5.77%, cranial vault asymmetry improved by 0.71 cm, whereas the cranial index changed by 5.48%. Three-dimensional photogrammetry can support treatment control in patients with deformational plagiocephaly. This new technology offers several advantages such as easy acquisition of images, detection of landmarks without patient movement, repeatable measurements without patient discomfort, and the opportunity for unbiased evaluation.

Craniosynostosis is characterized by the fusion of sutures. It presents with an abnormal head shape. This article examines this defect and discusses its embryologic origin. A systemic physical assessment guide serves as a tool to enhance early recognition of this defect. Pictorial examples increase understanding of the defect. A discussion of treatment and nursing implications, with an emphasis on family support, is provided.

Craniofacial anomalies show a wide spectrum of phenotypes and imply functional and esthetic disfigurement above all in cases of syndromal patients. The development in the field of craniofacial surgery during the last decades has brought us a system of highly standardized surgical procedures for the correction of the facial framework and the neighboring areas of the neurocranium which have only few tendencies for relapse. The feasibility of correction is nearby unlimited but implies sometimes considerable effort. As in other medical disciplines as well there is a risk of going beyond necessaries due to enthusiasm. The realistic assessment of patient's benefit must be the basis for the indication, timing and realization of each individual decision.