Diagnostic Accuracy of Craniosynostosis in Japan: A Survey Using Three-Dimensional Physical Models

Craniosynostosis is the premature fusion of cranial sutures, which interferes with normal brain development and requires surgical treatment. By contrast, positional cranial deformity primarily results from external pressure exerted by the sleeping position and is usually managed conservatively. Accurately differentiating between these 2 conditions is essential. In Japan, the use of helmet therapy to treat positional cranial deformities has rapidly expanded, particularly among pediatricians. However, diagnoses based solely on visual inspection and palpation are limited. The aim of this study was to evaluate the diagnostic ability of pediatricians and physicians who treat craniosynostosis and to clarify the current status of diagnostic accuracy. Using computed tomography (CT) data from 10 patients with craniosynostosis and 1 patient with positional cranial deformity treated at Keio University Hospital between 2018 and 2025, 11 physical cranial models were created with 3-dimensional printing and covered with silicone to simulate soft tissue. These models were exhibited at academic meetings, and a questionnaire survey was conducted among pediatricians, craniofacial surgeons, and pediatric neurosurgeons to assess the accuracy of differentiating positional cranial deformities. Three hundred thirty-nine pediatricians and 49 craniofacial and pediatric neurosurgeons responded. The overall correct answer rate among pediatricians was 16.6%, with unilateral lambdoid craniosynostosis being the most frequently selected diagnosis (26.3%). By contrast, craniofacial and pediatric neurosurgeons had a correct answer rate of 49.0%, with unilateral lambdoid craniosynostosis being the second most frequent diagnosis in this group (21.6%). Many respondents indicated that visual inspection alone was insufficient for differentiation and that radiographic imaging was necessary. Pediatricians' diagnostic accuracy for infant cranial deformities is lower than that of craniofacial surgeons/pediatric neurosurgeons, suggesting that craniosynostosis may be overlooked. To ensure accurate diagnosis and appropriate treatment, clinical systems, including specialist referral and the appropriate use of imaging, need improvement.