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![Normal cranial suture development. (A) View of child's skull from above, showing position of the major sutures. Coronal craniosynostosis leads to a short, broad skull; conversely, sagittal synostosis leads to a long, narrow skull. (B) Diagrammatic cross section through coronal suture. The skull bones overlap slightly. In craniosynostosis, the narrow space separating the bones is obliterated. Reproducted with permission from [4] Wilkie AOM: Craniosynostosis: genes and mechanisms, Human Molecular Genetics, 1997, Vol. 6, No. 10 Review.](publication/41171807/figure/fig2/AS:622636782592002@1525459585585/Normal-cranial-suture-development-A-View-of-childs-skull-from-above-showing-position.png)
Normal cranial suture development. (A) View of child's skull from above, showing position of the major sutures. Coronal craniosynostosis leads to a short, broad skull; conversely, sagittal synostosis leads to a long, narrow skull. (B) Diagrammatic cross section through coronal suture. The skull bones overlap slightly. In craniosynostosis, the narrow space separating the bones is obliterated. Reproducted with permission from [4] Wilkie AOM: Craniosynostosis: genes and mechanisms, Human Molecular Genetics, 1997, Vol. 6, No. 10 Review.
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Craniosynostosis represents a defection of the skull caused by early fusion of one or more cranial sutures. The shape alteration of the cranial vault varies, depending on the fused sutures, so that compensatory growth occurs in dimensions not restricted by sutures. Craniosynostosis can be divided into two main groups: syndromic and nonsyndromic. No...
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Context 1
... humans, the mineralization of the cranial vault mostly occurs directly from the derived membrane of the paraxial mesoderm, proceeding outwards from several ossification centres after approximately 13 weeks of embryonic development [4]. At approximately 18 weeks, these mineralizing bone fronts meet and sutures are induced along the lines of approximation. Subsequently, the skull enlarges by appositional growth at the suture with deposition of premineralised bone matrix (osteoid) along the suture margins. The major cranial sutures are shown in Fig. 2A. Premature fusion of one or more of these sutures (craniosynostosis) prevents further growth along the margin; excessive growth at other sutures leads to skull distortion. The suture itself is anatomically a simple structure (Fig. 2B), comprising the two plates of bone separated by a narrow space containing immature, rapidly dividing osteogenic stem cells, a proportion of which are recruited to differentiate from osteoblasts and make new bone. [4] The alteration in shape of the cranial vault varies with the fused sutures, so that compensatory growth occurs in dimensions not restricted by sutures (Fig. 3). Normally, the skull grows in planes perpendicular to the sutures, but premature fusion forces growth in a plane parallel to the closed suture [5]. ...
Context 2
... humans, the mineralization of the cranial vault mostly occurs directly from the derived membrane of the paraxial mesoderm, proceeding outwards from several ossification centres after approximately 13 weeks of embryonic development [4]. At approximately 18 weeks, these mineralizing bone fronts meet and sutures are induced along the lines of approximation. Subsequently, the skull enlarges by appositional growth at the suture with deposition of premineralised bone matrix (osteoid) along the suture margins. The major cranial sutures are shown in Fig. 2A. Premature fusion of one or more of these sutures (craniosynostosis) prevents further growth along the margin; excessive growth at other sutures leads to skull distortion. The suture itself is anatomically a simple structure (Fig. 2B), comprising the two plates of bone separated by a narrow space containing immature, rapidly dividing osteogenic stem cells, a proportion of which are recruited to differentiate from osteoblasts and make new bone. [4] The alteration in shape of the cranial vault varies with the fused sutures, so that compensatory growth occurs in dimensions not restricted by sutures (Fig. 3). Normally, the skull grows in planes perpendicular to the sutures, but premature fusion forces growth in a plane parallel to the closed suture [5]. ...
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... При синдроме Крузона брахицефалия служит наиболее распространенным проявлением деформации черепа, вследствие сращения коронарного шва. Однако нередки тригоноцефалия (килевидная, треугольная деформация черепа), скафоцефалия (уменьшение поперечного и компенсаторное увеличение переднезаднего размера черепа, ладьевидная деформация), акроцефалия (вытянутая башнеобразная форма черепа) [9,10]. Микрогнатия верхней челюсти часто приводит к развитию прогнатии. ...
Syndromic craniosynostosis is a special group of hereditary pathologies. One of the syndromic craniosynostoses is Crouzon syndrome, an autosomal dominant pathology of the primary violation of the fusion of cranial sutures. It occurs with a frequency of 1:60,000 newborns. The disease leads to a number of secondary complications, such as exophthalmos, orthognathic problems, impaired vision, hearing, breathing, lag in neuropsychic development. The development of Crouzon syndrome is associated with a missense mutation in the fibroblast growth factor receptor-2 (FGFR2) gene. In modern medicine, a variant of Crouzon syndrome with black acanthosis is also known, the development of which is associated with a mutation in the FGFR3 gene. The similarity of clinical manifestations as with others syndromic craniosynostoses, also between 2 variants of Crouzon syndrome, leads to difficulties in differential diagnostic search. Knowledge and awareness of the full clinical presentation of this syndrome makes it possible to timely diagnose and treat, prevent possible severe complications and improve the quality of life of patients with Crouzon syndrome. This article describes 2 clinical cases with mutations in the FGFR2 and FGFR3 genes.
... There are more than 180 different craniosynostosis syndromes with many different genetic bases, including mutations in the Fibroblast Growth Factor Receptor 1-3 (FGFR1, FGFR2, and FGFR3) genes, among others (e.g., TWIST (Ye et al., 2016), MSX2, and BMP2 (Justice et al., 2012)). The more common and well-characterized forms of craniosynostosis include Apert, Crouzon, and Pfeiffer syndromes, which vary in the type and severity of the clinical presentation (reviewed in Ciurea & Toader, 2009). FGFR1-3 mutations are specifically associated with Pfeiffer, Apert, Crouzon, Beare-Stevenson, Jackson-Weiss, and Muenke syndromes. ...
Craniosynostosis is a common yet complex birth defect, characterized by premature fusion of the cranial sutures that can be syndromic or nonsyndromic. With over 180 syndromic associations, reaching genetic diagnoses and understanding variations in underlying cellular mechanisms remains a challenge. Variants of FGFR2 are highly associated with craniosynostosis and warrant further investigation. Using the missense mutation FGFR2W290R, an effective mouse model of Crouzon syndrome, craniofacial features were analyzed using geometric morphometrics across developmental time (E10.5—adulthood, n = 665 total). Given the interrelationship between the cranial vault and basicranium in craniosynostosis patients, the basicranium and synchondroses were analyzed in perinates. Embryonic time points showed minimal significant shape differences. However, hetero- and homozygous mutant perinates and adults showed significant differences in shape and size of the cranial vault, face, and basicranium, which were associated with cranial doming and shortening of the basicranium and skull. Although there were also significant shape and size differences associated with the basicranial bones and clear reductions in basicranial ossification in cleared whole-mount samples, there were no significant alterations in chondrocyte cell shape, size, or orientation along the spheno-occipital synchondrosis. Finally, shape differences in the cranial vault and basicranium were interrelated at perinatal stages. These results point toward the possibility that facial shape phenotypes in craniosynostosis may result in part from pleiotropic effects of the causative mutations rather than only from the secondary consequences of the sutural defects, indicating a novel direction of research that may shed light on the etiology of the broad changes in craniofacial morphology observed in craniosynostosis syndromes.
... Craniosynostosis, the premature convergence of certain cranial sutures, occurs at a rate of 1 in 2500 births [1,2]. The occipital sutures (40-55%) are the most commonly affected, followed by the coronal (20-25%), frontal (5-15%), and lambdoid (<5%) sutures. ...
... The bones of the cranial vault are formed through the endomembrane ossification of embryonic mesenchymal cells, resulting in a cranial vault consisting of eight flat bones [4]. Fibrous joints, the sutures, develop between the bones and are composed of rapidly proliferating stem cells, which have the potential to differentiate into osteoblasts and contribute to osteoid formation [2]. There are four main sutures: the coronoid, located between the frontal and parietal bones; the occipital, between the left and right parietal bones; the parietal, between the occipital and both parietal bones; and the frontal, between the frontal bones. ...
... The points where the cranial sutures are connected in embryos are called fontanelles and are composed entirely of connective tissue. The anterior (frontal) fontanelle is the junction of the occipital and coronal sutures and closes at 20 months post-birth, while the posterior fontanelle is the junction of the occipital and lambdoid sutures and closes at three months after birth [2]. The two lateral fontanelles are called the sphenoid and mastoid. ...
Craniosynostosis is a fetal skull condition that occurs when one or multiple sutures merge prematurely. This leads to limited growth perpendicular to the fused suture, which results in compensatory growth of cranial bones parallel to it. Syndromic craniosynostosis ensues when the cranial deformity is accompanied by respiratory, neurological, cardiac, musculoskeletal, and audio-visual abnormalities. The most common syndromes are Apert, Crouzon, Pfeiffer, Muenke, and Saethre-Chotzen syndromes and craniofrontonasal syndrome. Each of these syndromes has distinct genetic mutations that contribute to their development. Mutations in genes such as FGFR, TWIST, and EFNB1 have been identified as playing a role in the development of these syndromes. Familiarity with the genetic basis of each syndrome is not only essential for identifying them but also advantageous for current pharmacological investigations. Surgical treatment is often necessary for syndromic craniosynostosis to correct the cranial deformities. Advances have been made in surgical techniques for each specific syndrome, but further research is needed to develop personalized approaches that address the unique symptoms and complications of individual patients, particularly those related to neurological and respiratory issues. This group of syndromes included in cranial synostosis presents significant educational and clinical interest due to the wide range of symptoms and the variable course of the disease, especially in the last decades when crucial advances in diagnosis and treatment have been achieved, altering the prognosis as well as the quality of life of these patients. In summary, this article provides a comprehensive overview of syndromic craniosynostosis, including the genetic mutations associated with each syndrome and the surgical treatment options available.
... To our knowledge, we present the largest collective of photogrammetry scans of craniofacial patients assessed using convolutional neural networks. The observed 3:1 male-to-female ratio aligns with the existing literature, particularly in the context of metopic and sagittal synostosis [32]; we, therefore, deem it a representable collective for the representative classes. ...
Positional cranial deformities are a common finding in toddlers, yet differentiation from craniosynostosis can be challenging. The aim of this study was to train convolutional neural networks (CNNs) to classify craniofacial deformities based on 2D images generated using photogrammetry as a radiation-free imaging technique. A total of 487 patients with photogrammetry scans were included in this retrospective cohort study: children with craniosynostosis (n = 227), positional deformities (n = 206), and healthy children (n = 54). Three two-dimensional images were extracted from each photogrammetry scan. The datasets were divided into training, validation, and test sets. During the training, fine-tuned ResNet-152s were utilized. The performance was quantified using tenfold cross-validation. For the detection of craniosynostosis, sensitivity was at 0.94 with a specificity of 0.85. Regarding the differentiation of the five existing classes (trigonocephaly, scaphocephaly, positional plagiocephaly left, positional plagiocephaly right, and healthy), sensitivity ranged from 0.45 (positional plagiocephaly left) to 0.95 (scaphocephaly) and specificity ranged from 0.87 (positional plagiocephaly right) to 0.97 (scaphocephaly). We present a CNN-based approach to classify craniofacial deformities on two-dimensional images with promising results. A larger dataset would be required to identify rarer forms of craniosynostosis as well. The chosen 2D approach enables future applications for digital cameras or smartphones.
... Although the actual presentation of SS across individuals demonstrates considerable clinical variability (Diab et al., 2022), surgical treatment (e.g., cranial vault remodelling, strip craniectomy; Brooks et al., 2018) is typically required to improve the child's appearance and relieve intracranial pressure, thereby allowing the brain to grow and develop normally (Chummun et al., 2016;David, 2003). The causes of SS remain unclear, with genetics (e.g., SMAD6 gene mutation), gestational exposure to environmental factors (e.g., maternal smoking, valproate medication), hormonal influences (e.g., maternal hyperthyroidism), mechanical forces (e.g., intrauterine constraint) and familial cases (in 2-6% of SS cases) all implicated (Calpena et al., 2020;Ciurea & Toader, 2009;Lajeunie et al., 1996;Wilkie et al., 2017). ...
Research examining the behavioural and psychological functioning of children and adults with sagittal synostosis (SS) is scarce, often disparate, and lacks well-matched control groups. Clinicians are therefore often unable to provide families with guidance about their child’s anticipated functioning. Social media channels were used to recruit community-based parents of children with SS, or adults with SS ( n = 56) and an age- and sex-matched control group ( n = 56). Families completed an online survey encompassing a range of demographic and clinical variables and a comprehensive battery of validated questionnaires. Surveys were either parent-rated (children 2 to < 5 years), both parent-rated and self-reported (children 5 to ≤ 18 years), or self-reported only (adults ≥ 19 years). Results show that for both unadjusted and adjusted (SES) analyses, children and adults were functioning at a similar level to their peers. Whilst mean parent-rated scores generally indicated that children with SS were experiencing slightly more difficulties, group differences were not statistically significant. Most adjusted Hedges’ g effect sizes were trivial ( g = .10) to small ( g = .20). Nonetheless, more children with SS were assessed as having clinically significant problems on each composite of the Behavior Assessment System for Children 3 rd Ed. In addition, screening rates of Attention Deficit Hyperactivity Disorder (18%; Behavior Rating Inventory of Executive Function 2) and Autism Spectrum Disorder (15%; Social Responsiveness Scale-2), in children with SS, were high. Findings suggest that children with SS should be monitored and referrals for appropriate support made readily available, as required.
... It is also known as anterior plagiocephaly and accounts for 30-35% of non-syndromic craniosynostosis cases [5]. The prevalence of UCS is approximately 1 in 10,000 live births worldwide, with a higher incidence in females [4,6]. ...
Citation: Tan, E.T.C.; Rostamzad, P.; Esser, Y.S.; Pleumeekers, M.M.; Loudon, S.E. Torticollis in Non-Syndromic Unicoronal Craniosynostosis Is Predominantly Ocular Related.
... The pathological specimens obtained from a resected skull showed what appeared to be premature fusion of the sagittal suture. Although the molecular biological mechanisms of craniosynostosis are being elucidated, the histopathology has not been studied in detail [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19]. In this study, we presented an S-shaped coronal suture of case 4 as a normal structure in pathological specimen; however, the difference in morphological structure between coronal (S-shaped) and sagittal (I-shaped) sutures is not pathological. ...
Sagittal suture synostosis is one of the most common craniosynostoses and is often diagnosed by characteristic narrow and long skull shape, scaphocephaly. However, some patients with sagittal suture synostosis do not present with typical scaphocephaly, making early diagnosis difficult. In this study, five cases of characteristic skull deformity showing a narrowing of the cranium posterior to the coronal suture on computed tomography (CT) are presented. The three older children presented with papilledema and intellectual disability and a closed sagittal suture on CT. The two infant cases were diagnosed with the characteristic cranial deformities with aggravation of the deformity over time, but sagittal suture closure was not evident on CT. All patients underwent cranial remodeling surgery. In the two infant cases, the histopathological findings showed that the anterior part of the sagittal suture was firmly fused with fibrous tissue without bony fusion. These findings suggested that narrowing of the cranium posterior to the coronal suture might be due to functional fusion of the anterior portion of the sagittal suture prior to bony fusion. In an infant presenting with such a deformity that shows aggravation of the deformity over time, surgical treatment should be considered.
... Craniosynostosis is the premature fusion of calvarial bones in one or more cranial sutures, leading to an abnormal head shape. 1,2 Craniosynostosis is a common malformation that occurs in about 1 in 2000 to 2500 live births. 2 Premature closure of cranial sutures could happen anywhere; however, the most common site is the sagittal suture, which accounts for 56% of cases. In 13% of children with craniosynostosis, more than one suture is involved, causing an increased risk for the complications to happen. ...
Background: Craniosynostosis refers to the premature fusion of cranial sutures. Premature closure can impair brain development and cognitive problems. Only available treatment of craniosynostosis is through surgical intervention which is associated with excessive blood loss. Objectives: In this study, we investigate the prevalence of each ABO/Rh blood group amongst patients with different types of craniosynostosis. Methods: We included 163 patients, under craniosynostosis treatment, in Imam Hossein children’s hospital at Isfahan, Iran. A retrospective analysis was performed and the frequency of blood groups as well as types of craniosynostosis were reported. Moreover, the connection between ABO/Rh blood groups and the types of craniosynostosis was examined by chi-square test. Results: Of 163 cases reviewed; The majority of participants had blood group A positive (32.5%), followed by O positive (31.3%). The rest of the blood groups were reported in order: B positive (22.1%), B negative (4.9%), AB positive (4.3%), O negative (2.5%), A negative (1.8%), AB negative (0.6%). Also, the most common type of craniosynostosis was metopic (27%) and the other types were pansynostosis (23.9%), sagittal (21.5%), coronal (16.6%), multisuture (10.4%) and lambdoid (0.6%) respectively. Due to connection between ABO/Rh blood groups and the types of craniosynostosis, no significant relationship was observed. Conclusion: Based on the results of the present study, it was found that the frequency of ABO blood groups in children with craniosynostosis can be different from the population of the same area. Also, the ratio of different types of craniosynostosis was different from previous data.
... FGFR2 has a signaling function in cranial sutures and plays a crucial role in limbs embryonic development (7). In 1912, a French neurosurgeon, Octave Crouzon, documented the first cases of CS when he identified a triad of calvarial deformities with craniofacial dysostosis, exophthalmos, and facial anomalies in a mother and her son (8). ...
Crouzon syndrome(CS) is the most common craniosynostosis condition.This report presents a rare case of a 25-year-old male CS patient referred for orthodontic treatment with the chief complaint of severe irregularities in the arrangement of teeth and abnormal facial appearance.The clinical,cephalometric features and initial orthodontic management of this patient are discussed
... In the past decades, significant progress has been made in understanding the genetic basis of craniosynostosis with mutations in the fibroblast growth factor (FGF) signaling pathway. They are important in neuronal differentiation, angiogenesis, wound healing, limb development, and mesoderm induction 16,17 . In strabismus patients, the molecular composition of extraocular muscles was altered, including myosins, tropomyosins, troponins, and collagen related proteins 18 . ...
The purpose of this study was to compare the differences of V-pattern exotropia in craniosynostosis and normal children. 39 children were included in this study, 19 craniosynostosis and 20 children in control group. They underwent comprehensive ocular examinations and received strabismus surgery. The extraocular muscle samples were analysed. Compared with the control group, craniosynostosis group had larger deviation in primary and up gaze, larger V pattern, and more severe inferior oblique overaction. For 20–40, and 50–60 prism diopter exotropia, the lateral recession in the craniosynostosis group was larger than that in the control group, 7.13 ± 0.44 mm vs 6.71 ± 0.47 mm, 8.90 ± 0.21 mm vs 7.75 ± 0.46 mm (p = 0.025, 0.000). The anterior transposition of craniosynostosis group was more anterior than that of control group, posterior 1.03 ± 1.24 vs 2.68 ± 0.94 mm (p = 0.000). Compared with the control group, the extraocular muscle abnormality in craniosynostosis was significant, 32% vs 5% (p = 0.031). There were 40 proteins in craniosynostosis group, which were different from those in control group. A larger V pattern and larger deviation is common in craniosynostosis children. For the same PD of deviation, it usually needs more recession in craniosynostosis because of the thinner and weaker extraocular muscles. Collagen related proteins were increased in craniosynostosis, and decreased contraction related protein tropomodulin might play key role for the weakness of EOMs.
