Craniosynostosis is characterized by the premature fusion of one or more major cranial sutures at birth or soon after. Single-suture non-syndromic craniosynostosis (NSC) is the most common form of craniosynostosis and includes the sagittal, metopic, unicoronal and unilambdoid subtypes. Characterized by an abnormal head shape specific to the fused suture type, NSC can cause increased intracranial pressure. Cranial sutures either originate from the neural crest or arise from mesoderm-derived mesenchymal stem cells. A mixture of environmental and genetic factors contributes to NSC, with genetic causes following a largely polygenic model. Physical examination is used to identify the majority of patients, but accompanying radiographic imaging can be confirmatory. The three major surgical techniques in use to treat NSC are cranial vault remodelling, strip craniectomy and spring-assisted cranioplasty. Surgical intervention is ideally performed in the first year of life, with a mortality of <1%. Health-care disparities contribute to delayed initial presentation and timely repair. Optimal timing of surgery and comparative outcomes by surgical technique remain under active study. School-age children with treated NSC on average have subtle, but lower cognitive and behavioural performance. However, patient-reported quality of life outcomes are comparable to those in control individuals.

Craniosynostosis (CS), a heterogeneous craniofacial disorder caused by premature fusion of cranial sutures, is sub-classified anatomically by suture involvement (sagittal, metopic, coronal, lambdoid) and phenotypically into isolated/non-syndromic forms or syndromic (CS with extracranial anomalies). Pathogenic variants in multiple genetic loci have been implicated in CS, with particular significance attributed to allelic variants in IL11RA (interleukin-11 receptor alpha subunit; OMIM#600939). Clinical observations of individuals with IL11RA mutations indicate syndromic CS, characterized by dental anomalies and Crouzon-like facial features. Genetic analyses were carried out utilizing whole-exome sequencing, with subsequent validation through direct Sanger sequencing. IL11RA biallelic pathogenic variants were detected and further analyzed by multiple in silico prediction tools, including 3D protein modeling. Our cohort comprises six pediatric patients presenting with CS linked to biallelic pathogenic mutations in IL11RA, including two previously unreported variants (p.Pro218Argfs*140, p.Trp132Ter). Three-dimensional protein structure modeling and molecular docking simulations demonstrated that four missense variants (p.Pro116Leu, p.Glu126Gly, p.Gly231Val, p.Leu236Pro) disrupt hydrogen bond networks critical for maintaining the IL-11 receptor alpha subunit's tertiary structure, significantly reducing ligand-binding affinity to both interleukin-11 (IL-11) and gp130. This study describes the clinical phenotype of six children with craniosynostosis and reveals novel variants in the IL11RA gene, thereby broadening the genotypic spectrum associated with this gene. Given the scarcity of patients reported in the literature, a detailed examination of the specific clinical and molecular characteristics will benefit our understanding of craniosynostosis caused by IL11RA variants.

ObjectiveWe assessed the prevalence of guardian-reported reading difficulties in children treated for non-syndromic craniosynostosis (NSC) and in relation to the location of the closed suture. Additionally, we determined correlations with guardian-reported neurodevelopmental disorders (NDDs) and associations between reported reading ability, sex, timing of surgical intervention, parental education, and heredity of reading difficulties in guardians.DesignCross-sectional, prospective, population-based study.SettingTertiary hospital.ParticipantsThe cohort included 127 participants (aged 9-10 years) treated for NSC (76 sagittal, 38 metopic, 9 unicoronal, and 1 each of bicoronal, lambdoid, frontosphenoidal, and multisuture NSC).Main outcome measuresThe prevalence of guardian-reported reading difficulties was defined as a score ≥8 out of 14 points on the Short Dyslexia Scale. We determined associations between reported reading ability and reported NDDs through binomial regression analysis.ResultsThe cohort demonstrated a 14.2% risk of of guardian-reported reading difficulties, with sagittal, metopic, and unicoronal NSCs exhibiting respective prevalences of 10.5%, 18.4%, and 23.1%. NDDs were reported in 22% of participants and significantly associated with reading difficulties.ConclusionsThe results indicated that participants with sagittal NSC showed the lowest risk of reading difficulties. Additionally, we found that NDDs represent significant risk factors for guardian-reported reading difficulties across the patient cohort. These findings underscore the need for targeted screening and support, especially for patients with metopic and unicoronal NSC, to guide clinical and educational decisions.

Craniosynostosis may result in malformations of the orbit, which can be observed in clinical presentations. Craniosynostosis impairs the normal growth of the skull, which typically occurs perpendicular to the fused suture. Craniosynostosis is classified into non-syndromic and syndromic, with an incidence of 1: 2000-2500 live births. It is commonly affects the sagittal suture (40-60%), followed by the coronal suture (20-30%), the metopic suture (<10%), and rarely the lambdoid suture. Computed tomography (CT) scan plays a crucial role in identifying the type of cranial abnormality and associated disruptions in the orbital axis (OX). The research sample was craniosynostosis patients who were examined at the Radiology Department of Dr. Soetomo General Hospital at Surabaya, Indonesia for the period January 2017-March 2022, male or female aged <8 years and have never had head surgery. Evaluation of the position and axis of the extraocular muscles within the orbits is drawn on the coronal section. In this study, pediatric CT images were acquired at 100 kVp (CTDIvol 2.3 mGy; DLP 84.8 mGy*cm; scan time 6.1 s; helical pitch 0.297). The research was conducted using a case-control method. The case group consisted of patients with craniosynostosis, while the control group included patients without craniosynostosis, encompassing those with conditions such as meningoencephalitis. After the data source is obtained, then the case and control data are matched and then the Chi-square correlation test is carried out through Statistical Package for the Social Sciences. A significant correlation was found between the incidence of craniosynostosis and abnormalities of OX (P-value: 0.000; OR: 22.81; R: 0.635). There is a significant correlation between the incidence of craniosynostosis that has two or more sutural fusions and abnormalities of OX. Strabismus associated with craniosynostosis is typically detected in patients at an older age. Hopefully, by analyzing the eye angle through CT scans while craniosynostosis is established, abnormalities of the orbital axis can be identified. So the progression of strabismus can be prevented.

Craniosynostosis is an atypical skull shape characterized by the premature fusion of cranial sutures. It is one of the most common congenital anomalies encountered by craniofacial surgeons, with a prevalence of one in every 2000-2500 births. It is classified into two main types: syndromic and nonsyndromic. In syndromic, the patient presents with other abnormalities involving the trunk, face, or extremities. While in nonsyndromic the only anomy is the premature fusion, which usually involves one suture; the most common subtypes are unicoronal, sagittal, bicoronal, metopic, and lambdoid. As a consequence, premature fusion before its natural time restricts the space for the brain to grow, increases intracranial pressure, causes damage to the brain tissue, and affects the development of the child. This review comprehensively provides a detailed overview of nonsyndromic craniosynostosis and aims to highlight the importance of early and accurate diagnosis, and determining the most suitable intervention, whether surgical or conservative modalities. The optimal treatment approach produces the most favorable aesthetic and functional outcomes.