Diagnostic Accuracy of Ultrasound in Diagnosing Craniosynostosis in Infants Using CT as the Gold Standard
DOI:
https://doi.org/10.37762/jgmds.13-4.884Keywords:
Craniosynostosis, Cranial Ultrasound, Computed Tomography, Diagnostic Accuracy, Infant Imaging, Radiation-Free Screening, Pediatric RadiologyAbstract
OBJECTIVE
This study aimed to determine the diagnostic accuracy of cranial ultrasound in detecting craniosynostosis in infants using computed tomography (CT) as the reference standard.
METHODOLOGY
This cross-sectional validation study was conducted in the Department of Radiology, MTI–Hayatabad Medical Complex, Peshawar. A total of 125 infants aged 2–6 months with clinical suspicion of craniosynostosis were enrolled through non-probability consecutive sampling. All infants underwent cranial ultrasound followed by CT scan. Ultrasound findings were compared with CT results, which were taken as the gold standard. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and overall diagnostic accuracy were calculated.
RESULTS
The mean age of infants was 4.02 ± 1.40 months. CT confirmed craniosynostosis in 120 (96.0%) cases. Ultrasound demonstrated a sensitivity of 79.17% (95% CI: 71.05–85.47%), specificity of 80.00% (95% CI: 37.55–96.38%), PPV of 98.96% (95% CI: 94.33–99.82%), NPV of 13.79% (95% CI: 5.50–30.56%), and overall diagnostic accuracy of 79.20% (95% CI: 71.27–85.39%).
CONCLUSION
Cranial ultrasound shows acceptable diagnostic accuracy with very high PPV, supporting its use as a useful adjunct first-line imaging tool for craniosynostosis in settings with a high pre-test probability of disease, particularly in resource-limited settings; however, its low NPV in this high-prevalence referral cohort means a negative ultrasound cannot reliably exclude the diagnosis, and CT remains essential for equivocal cases and surgical planning.
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Bautista G. Craniosynostosis: neonatal perspectives. Neoreviews. 2021;22(4). doi:10.1542/neo.22-4-e250. PMID: 33795400 DOI: https://doi.org/10.1542/neo.22-4-e250
Bashawieh OO, Alyami MH, Alghamdi MA, Alotaibi FE, Alluhaybi AA, Altuhaini KS. Neurodevelopmental outcomes in children with craniosynostosis: a retrospective cross-sectional analysis. Childs Nerv Syst. 2026;42(1):49. doi:10.1007/s00381-026-07128-9. PMID: 41604010 DOI: https://doi.org/10.1007/s00381-026-07128-9
Lewanda AF, Jabs EW, Sanchez-Lara PA. Craniosynostosis. In: Pyeritz RE, Korf BR, Grody WW, editors. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Developmental Disorders. Elsevier; 2025. p. 81-104. doi:10.1016/B978-0-12-815234-8.00004-5. PMID: 31335086 DOI: https://doi.org/10.1016/B978-0-12-815234-8.00004-5
Lattanzi W. Craniosynostosis: genetic basis, genes, chromosomes, and resulting syndromes. In: Di Rocco C, Pang D, Rutka JT, editors. Textbook of Pediatric Neurosurgery. Cham: Springer; 2020. p. 1373-1391. doi:10.1007/978-3-319-72168-2_56 DOI: https://doi.org/10.1007/978-3-319-72168-2_56
Russo C, Aliberti F, Ferrara UP, Russo C, De Gennaro DV, Cristofano A, et al. Neuroimaging in non-syndromic craniosynostosis: key concepts to unlock innovation. Diagnostics (Basel). 2024;14(17):1842. doi:10.3390/diagnostics14171842 DOI: https://doi.org/10.3390/diagnostics14171842
Aziz MM, Onyejesi C, Pyala R, Alattar O, Abdul AA, Alagarswamy K, et al. Reducing radiation exposure in pediatric CT imaging: strategies and alternatives in emergency medicine—a narrative review. J Emerg Crit Care Med. 2025;9. doi:10.21037/jeccm-24-102 DOI: https://doi.org/10.21037/jeccm-24-102
Caro-Domínguez P, Lecacheux C, Hernandez-Herrera C, Llorens-Salvador R. Cranial ultrasound for beginners. Transl Pediatr. 2021;10(4):1117-1137. doi:10.21037/tp-20-399. PMID: 34012859 DOI: https://doi.org/10.21037/tp-20-399
Micovic M, Zivkovic B, Vukasinovic I, Jelovac D, Stojicic M, Bascarevic V. Imaging modalities in craniosynostosis: a systematic review and proposal of the ARCANA protocol for multimodal radiation-free assessment. Diagnostics (Basel). 2025;15(20):2632. doi:10.3390/diagnostics15202632 DOI: https://doi.org/10.3390/diagnostics15202632
Massimi L, Bianchi F, Frassanito P, Calandrelli R, Tamburrini G, Caldarelli M. Imaging in craniosynostosis: when and what? Childs Nerv Syst. 2019;35(11):2055-2069. doi:10.1007/s00381-019-04278-x. PMID: 31289853 DOI: https://doi.org/10.1007/s00381-019-04278-x
Proisy M, Bruneau B, Riffaud L. How ultrasonography can contribute to diagnosis of craniosynostosis. Neurochirurgie. 2019;65(5):228-231. doi:10.1016/j.neuchi.2019.09.019. PMID: 31586456 DOI: https://doi.org/10.1016/j.neuchi.2019.09.019
Marino S, Ruggieri M, Marino L, Falsaperla R. Sutures ultrasound: useful diagnostic screening for posterior plagiocephaly. Childs Nerv Syst. 2021;37(12):3715-3720. doi:10.1007/s00381-021-05324-3. PMID: 34453581 DOI: https://doi.org/10.1007/s00381-021-05324-3
Alizadeh H, Najmi N, Mehdizade M, Najmi N. Diagnostic accuracy of ultrasonic examination in suspected craniosynostosis among infants. Indian Pediatr. 2013;50(1):148-150. doi:10.1007/s13312-013-0029-9. PMID: 23396787 DOI: https://doi.org/10.1007/s13312-013-0029-9
Montoya JC, Eckel LJ, DeLone DR, Kotsenas AL, Diehn FE, Yu L, et al. Low-dose CT for craniosynostosis: preserving diagnostic benefit with substantial radiation dose reduction. AJNR Am J Neuroradiol. 2017;38(4):672-677. doi:10.3174/ajnr.A5063. PMID: 28183836 DOI: https://doi.org/10.3174/ajnr.A5063
Lyoo Y, Choi YH, Lee SB, Lee S, Cho YJ, Shin SM, et al. Ultra-low-dose computed tomography with deep learning reconstruction for craniosynostosis at radiation doses comparable to skull radiographs: a pilot study. Pediatr Radiol. 2023;53(11):2260-2268. doi:10.1007/s00247-023-05717-3. PMID: 37488451 DOI: https://doi.org/10.1007/s00247-023-05717-3
Kaasalainen T, Männistö V, Mäkelä T, Suojanen J, Nuorala A, Heliövaara A, et al. Postoperative computed tomography imaging of pediatric patients with craniosynostosis: radiation dose and image quality comparison between multi-slice computed tomography and O-arm cone-beam computed tomography. Pediatr Radiol. 2023;53(8):1704-1712. doi:10.1007/s00247-023-05644-3. PMID: 36967418 DOI: https://doi.org/10.1007/s00247-023-05644-3
Tao W, Goetti R. Evaluation of ultra-low-dose CT with tin filter for craniosynostosis. J Med Imaging Radiat Oncol. 2025;69(1):28-34. doi:10.1111/1754-9485.13812. PMID: 39601235 DOI: https://doi.org/10.1111/1754-9485.13812
de Goederen R, Yang S, Pullens B, Wolvius EB, Joosten KFM, Mathijssen IMJ. Evaluation of the OSA treatment protocol in syndromic craniosynostosis during the first 6 years of life. J Plast Reconstr Aesthet Surg. 2021;74(10):2674-2682. doi:10.1016/j.bjps.2021.03.033. PMID: 34112566 DOI: https://doi.org/10.1016/j.bjps.2021.03.033
Fahradyan A, Daneshgaran G, Hoffman TL, Wexler A, Francis SH. Challenging the norm: is routine use of cranial CT in evaluation of craniosynostosis necessary? J Craniofac Surg. 2021;32(7):2496-2499. doi:10.1097/SCS.0000000000007926. PMID: 34705393 DOI: https://doi.org/10.1097/SCS.0000000000007926
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Copyright (c) 2026 Kiran Zafar, Naila Tamkeen, Jawad Ali, Khalid Kamal, Sahar Gulab, Faryal Bashir
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