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CranioRate: An Image-Based, Deep-Phenotyping Analysis Toolset and Online Clinician Interface for Metopic Craniosynostosis?
Justin W. Beiriger1, BSE; Wenzheng Tao2, MS; Madeleine K. Bruce1, BA; Erin Anstadt, MD; Cameron Christensen2; John Smetona1, MD; Ross Whitaker2, PhD; Jesse Goldstein1, MD
1 University of Pittsburgh Medical Center, Department of Plastic Surgery; 2 University of Utah, School of Computing

Introduction: The diagnosis and management of metopic craniosynostosis involves subjective decision-making at the point of care. The purpose of this work is to describe a quantitative severity metric and point-of-care user interface to aid clinicians in the management of metopic craniosynostosis and to provide a platform for future research through deep phenotyping.
Methods: Two machine-learning algorithms were developed that quantify the severity of craniosynostosis a supervised model specific to metopic craniosynostosis (Metopic Severity Score) and an unsupervised model used for cranial morphology in general (Cranial Morphology Deviation). CT imaging from multiple institutions were compiled to establish the spectrum of severity and a point-of-care tool was developed and validated.
Results: Over the study period (2019-2021), 254 patients with metopic craniosynostosis and 92 control patients who underwent CT scan between the ages of 6 and 18 months were included. Scans were processed using an unsupervised machine-learning based dysmorphology quantification tool, CranioRateTM. The average Metopic severity score (MSS) for normal controls was 0.01.0 and for metopic synostosis was 4.92.3 (p<0.001). The average Cranial Morphology Deviation (CMD) for normal controls was 85.219.2 and for metopic synostosis was 189.943.4 (p<0.001). A point-of-care user interface (craniorate.org) has processed 46 CT images from 10 institutions.
Conclusion: The resulting quantification of severity using MSS and CMD has shown an improved capacity, relative to conventional measures, to automatically classify normal controls versus patients with metopic synostosis. We have mathematically described, in an objective and quantifiable manner, the distribution of phenotypes in metopic craniosynostosis.


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