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Purpose: Trigonocephaly is associated with suboptimal visual outcomes in young children. However, the presence of orthoptic abnormalities after completed visual development remains unknown. The purpose of this study is to assess the prevalence of orthoptic abnormalities in trigonocephaly patients, after completed visual development. Methods: A retrospective study among non-syndromic trigonocephaly patients aged 8 years and older was conducted at the Dutch Craniofacial center. Ophthalmologic records were reviewed for refractive errors and a history of strabismus and amblyopia. Refractive errors were classified as follows: myopia: spherical equivalent (SE) ≤ -0.50 diopters (D), emmetropia: SE -0.50 D to + 0.50 D, hyperopia: ≥ + 0.50 D, astigmatism: cylinder error ≥ 1.00 D. The history of strabismus and amblyopia was assessed retrospectively. Prevalence and cumulative incidence of these abnormalities in healthy age-matched populations were retrieved from literature. Results: We included 78 trigonocephaly patients with a median (interquartile range) age of 10.0 (9.0–12.0) years. Thirty-four (43.6%) of these patients presented with a refractive error after the age of 8 years. Specific findings in these 78 patients versus controls were hyperopia in 35.9% vs 8.4%; myopia in 6.4% vs 11.4%; astigmatism in 20.5% vs 11.9%; strabismus in 14.1% vs 2.65%; amblyopia in 6.4% vs 3.4%. Conclusions: Trigonocephaly patients have a two-to-threefold higher risk of hyperopia, astigmatism, amblyopia, and strabismus, as compared to healthy populations. We recommend screening and, in case of abnormalities, regular follow-up before completed visual development. In addition, we recommend long-term surveillance of visual functioning by a pediatric ophthalmologist and/or orthoptist. [ABSTRACT FROM AUTHOR]

Background: Craniosynostosis, a congenital condition characterized by the premature fusion of cranial sutures, necessitates objective methods for evaluating cranial morphology to enhance patient treatment. Current subjective assessments often lead to inconsistent outcomes. This study introduces a novel, quantitative approach to classify craniosynostosis and measure its severity. Methods: An artificial neural network was trained to classify normocephalic, trigonocephalic, and scaphocephalic head shapes based on a publicly available dataset of synthetic 3D head models. Each 3D model was converted into a low‐dimensional shape representation based on the distribution of normal vectors, which served as the input for the neural network, ensuring complete patient anonymity and invariance to geometric size and orientation. Explainable AI methods were utilized to highlight significant features when making predictions. Additionally, the Feature Prominence (FP) score was introduced, a novel metric that captures the prominence of distinct shape characteristics associated with a given class. Its relationship with clinical severity scores was examined using the Spearman Rank Correlation Coefficient. Results: The final model achieved excellent test accuracy in classifying the different cranial shapes from their low‐dimensional representation. Attention maps indicated that the network's attention was predominantly directed toward the parietal and temporal regions, as well as toward the region signifying vertex depression in scaphocephaly. In trigonocephaly, features around the temples were most pronounced. The FP score showed a strong positive monotonic relationship with clinical severity scores in both scaphocephalic (ρ = 0.83, p < 0.001) and trigonocephalic (ρ = 0.64, p < 0.001) models. Visual assessments further confirmed that as FP values rose, phenotypic severity became increasingly evident. Conclusion: This study presents an innovative and accessible AI‐based method for quantifying cranial shape that mitigates the need for adjustments due to age‐specific size variations or differences in the spatial orientation of the 3D images, while ensuring complete patient privacy. The proposed FP score strongly correlates with clinical severity scores and has the potential to aid in clinical decision‐making and facilitate multi‐center collaborations. Future work will focus on validating the model with larger patient datasets and exploring the potential of the FP score for broader applications. The publicly available source code facilitates easy implementation, aiming to advance craniofacial care and research. [ABSTRACT FROM AUTHOR]

Background: Against the backdrop of the European Directive on patients' rights in cross-border healthcare, 24 European Reference Networks (ERNs) were launched in 2017. ERNs are networks of specialised hospitals working together to support patients with rare and/or complex diseases. ERN CRANIO is the ERN for craniofacial anomalies and ear, nose and throat disorders. The aim of this study was to explore ERN CRANIO's patient coverage of craniosynostosis.Methods: ERN CRANIO members and applicants were asked to retrospectively report the number of 'new craniosynostosis patients' (isolated and syndromic) seen in 2017. The number of live births per country in 2017 was retrieved from EUROSTAT, the EU's statistical office. The number of new patients reported per country and the number of live births were used to generate country-specific prevalence figures per 10,000 live births. These figures were compared to expected prevalence ranges for craniosynostosis, and syndromic craniosynostosis specifically, defined by recent European studies. The percentage of syndromic craniosynostosis cases per country was also compared to the expected percentage range.Results: Based on previous studies, the expected prevalence ranges for craniosynostosis and syndromic craniosynostosis specifically were respectively defined as 4.4-7.2 and 0.9-1.6 patients/10,000 live births. For craniosynostosis ('total'; isolated + syndromic), 'new patient' data from the UK and Finland generated prevalence figures within the expected range, and those in France, Spain, Italy, Portugal and Germany are lower than expected. However, when including applicant data, the prevalence figures for France, Spain and Italy become in range. Data from the Netherlands and Sweden generated higher prevalence figures than expected. For France, Finland, Italy and Sweden, there is inconsistency between patient coverage of 'total' and syndromic patients. For France, Germany, Finland and Italy, the percentage of syndromic craniosynostosis was lower than the expected range.Conclusion: ERN CRANIO's coverage of craniosynostosis varies across Europe. Results may be explained by data collection methods, genetic testing policies and/or national healthcare systems. With centre caseload a driving force for quality, additional ERN membership calls may not necessarily ensure sufficient patient coverage for countries with decentralised healthcare systems. Liaison with national health ministries should be encouraged to optimise patient coverage. [ABSTRACT FROM AUTHOR]

Objectives To determine whether dental maturity (dental development) was delayed in patients with Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis, compared with a Dutch control group without syndromes. Materials and methods This study included 60 patients (38 patients with Muenke syndrome, 17 patients with Saethre-Chotzen syndrome, and 5 with TCF12-related craniosynostosis), aged 5.8–16.8 years that were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care, and Orthodontics, in Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, the Netherlands. Dental age was calculated according to Demirjian's index of dental maturity. The control group included 451 children without a syndrome. Results Compared with the control group, dental development was delayed by an average of one year in 5- to 8-year-old patients with Muenke syndrome (P = 0.007) and in 8- to 10-year-old patients with Saethre-Chotzen syndrome (P = 0.044), but not in patients with TCF12 -related craniosynostosis. Conclusions Our results indicated that dental development was delayed by one year, on average, in patients with Muenke syndrome and Saethre-Chotzen syndrome, compared with a Dutch control group without syndromes. Implications Our findings have improved the understanding of dental development in patients with Muenke and Saethre-Chotzen syndrome. These results can provide guidance on whether the orthodontist needs to consider growth disturbances related to dental development. [ABSTRACT FROM AUTHOR]