Clinical features that need to be considered for crouzon syndrome in infancy: A rare case in Indonesia
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Oct 3, 2025
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Abstract
Crouzon syndrome is a rare congenital disorder marked by premature cranial suture closure, leading to craniofacial deformities and potential neurological and respiratory complications. In Indonesia, reports are scarce, particularly in infants, and existing studies are largely limited to descriptive case reports. This study aims to describe the clinical features of Crouzon syndrome in Indonesian infants and examine the potential role of Fibroblast Growth Factor Receptor 2 (FGFR2) mutations in relation to local healthcare conditions. Using a retrospective observational case study design, data were obtained from medical records of infants with respiratory distress and swallowing difficulties since the neonatal period, complemented by radiological findings and clinical management notes. The results revealed characteristic signs such as craniosynostosis, maxillary hypoplasia, exophthalmos, and evidence of FGFR2 involvement in premature cranial bone fusion. In conclusion, early diagnosis and routine prenatal monitoring are essential to prevent severe complications, while this study contributes to the limited national literature and supports the development of more contextually appropriate diagnostic and therapeutic protocols.
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How to Cite
Faustin, F. and Alexander, E. (2025) “Clinical features that need to be considered for crouzon syndrome in infancy: A rare case in Indonesia”, Science Midwifery, 13(4), pp. 1036-1041. doi: 10.35335/midwifery.v13i4.2090.
References
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Ardani, D. M., Hutagalung, M. R., & Kristyono, I. (2021). Successfully Tracheostomy and Monobloc Advancement with External Frontofacial Distraction Followed by Simultaneous Adenoidectomy, Conchotomy, and Septoplasty in Severe Late Crouzon Syndrome. Medico Legal Update, 21(2), 450–454. https://doi.org/10.37506/mlu.v21i2.2722
Bangun, C. G., Mafiana, R., & Gaus, S. (2019). Manajemen Anestesi untuk Tindakan Vp-Shunt pada Bayi Sindrom Crouzon dengan Hidrosefalus. Jurnal Neuroanestesi Indonesia, 8(1), 44–49. https://doi.org/10.24244/jni.vol8i1.211
Bowling, E. L., & Burstein, F. D. (2006). Crouzon syndrome. Optometry (St. Louis, Mo.), 77(5), 217–222. https://doi.org/10.1016/j.optm.2006.03.005
Cohen, M. (2009). Craniosynostosis and syndromes 2009 Jun;19(5):318-20. J College Physicians Surg Pak, 19(5), 318–320.
Derderian, C., & Seaward, J. (2012). Syndromic Craniosynostosis. Seminars in Plastic Surgery, 26(2), 64–75. https://doi.org/10.1055/s-0032-1320064
Fauzi, A. A. (2022). Sindrom Kelainan Saraf: Penuntun Diagnosis Praktis (Vol. 43).
Helman, S. N., Badhey, A., Kadakia, S., & Myers, E. (2014). Revisiting Crouzon syndrome: Reviewing the background and management of a multifaceted disease. Oral and Maxillofacial Surgery, 18(4), 373–379. https://doi.org/10.1007/s10006-014-0467-0
Hughes, C., Thomas, K., Johnson, D., & Das, S. (2013). Anesthesia for surgery related to craniosynostosis: A review. Part 2. Paediatric Anaesthesia, 23(1), 22–27. https://doi.org/10.1111/j.1460-9592.2012.03922.x
Itoh, N., & Ornitz, D. M. (2004). Evolution of the Fgf and Fgfr gene families. Trends in Genetics: TIG, 20(11), 563–569. https://doi.org/10.1016/j.tig.2004.08.007
Kalanjiam, V., & Manoharan, G. V. M. G. (2017). Crouzon syndrome—A rare case report. International Journal of Health Sciences, 11(4), 74–75.
Kaushik, A., Bhatia, H., & Sharma, N. (2016). Crouzon’s Syndrome: A Rare Genetic Disorder. International Journal of Clinical Pediatric Dentistry, 9(4), 384–387. https://doi.org/10.5005/jp-journals-10005-1395
Kim, S., Spadafora, N., Volk, A. A., & Zhang, L. (2021). Disciplinary structure and teacher support in Chinese and Canadian schools.
Kumar, A., Goel, N., Sinha, C., & Singh, A. (2017). Anesthetic Implications in a Child with Crouzon Syndrome. Anesthesia, Essays and Researches, 11(1), 246–247. https://doi.org/10.4103/0259-1162.200234
Mapindra, M. P., & Mahindra, M. P. (2021). Clinical Features of Apert Syndrome in Infancy: A rare case in Indonesia. SCRIPTA SCORE Scientific Medical Journal, 2(2), 140–144. https://doi.org/10.32734/scripta.v2i2.4563
Neto, F. X. P., Palheta, A. C. P., & Monteiro, M. (2008). Crouzon’s Syndrome: Literature Review. Intl. Arch. Otorhinolaryngol, 12(3), 436–441.
Porto Junior, S., Meira, D. A., da Cunha, B. L. B., Fontes, J., Pustilnik, H. N., da Silva da Paz, M. G., Araujo, T. B., Alcântara, T., Dourado, J. C., & de Avellar, L. M. (2024). Endoscopic surgery for craniosynostosis: A systematic review and single-arm meta analysis. Clinical Neurology and Neurosurgery, 242, 108296. https://doi.org/10.1016/j.clineuro.2024.108296
Rosarina, D., & Soebagdjo, H. D. (2011). Crouzon Syndrome. Jurnal Oftalmologi Indonesia, 7(5).
Sari, D., Widyastuti, Y., & Hidayat, F. (2021). Manajemen Jalan Nafas pada Pasien dengan Sindroma Crouzon. Jurnal Komplikasi Anestesi, 8(3), 1–8. https://doi.org/10.22146/jka.v8i3.8369
Singh, G., Malik, S., & Kaur, J. (2017). Crouzon syndrome: A case report. International Journal of Contemporary Pediatrics, 5(1), 260. https://doi.org/10.18203/2349-3291.ijcp20175597
Susantri, M., Irmawati, M., Irwanto, Suryawan, A., & Hutagalung, M. R. (2025). Preoperative and Postoperative Evaluation of Growth and Development of Patients with Crouzon Syndrome: Case Series Aligned with SDG Health Goals. Journal of Lifestyle and SDGs Review, 5(2), 50–44. https://doi.org/10.47172/2965-730X.SDGsReview.v5.n02.pe05044
Talolena, H. W. M., Irmawati, M., & Hutagalung, M. R. (2021). Crouzon Syndrome: A Case Report. IJCRT: International Journal of Creative Research Thoughts, 9(9).
Widita, A., Hutagalung, M., & Putri, I. L. (2017). Profile of Syndromic Kraniosinostosis for 5 Years in RSUD dr.Soetomo Surabaya. Qanun Medika - Medical Journal Faculty of Medicine Muhammadiyah Surabaya, 1(02). https://doi.org/10.30651/qm.v1i02.555
Wilkie, A. O., Oldridge, M., Tang, Z., & Maxson, R. E. (2001). Craniosynostosis and related limb anomalies. Novartis Foundation Symposium, 232, 122–133; discussion 133-143. https://doi.org/10.1002/0470846658.ch9
Wilkinson, C. C., Manchester, D. K., Keating, R. F., Ketch, L. L., & Winston, K. R. (2012). Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails. Child’s Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery, 28(8), 1221–1226. https://doi.org/10.1007/s00381-012-1813-x
Ardani, D. M., Hutagalung, M. R., & Kristyono, I. (2021). Successfully Tracheostomy and Monobloc Advancement with External Frontofacial Distraction Followed by Simultaneous Adenoidectomy, Conchotomy, and Septoplasty in Severe Late Crouzon Syndrome. Medico Legal Update, 21(2), 450–454. https://doi.org/10.37506/mlu.v21i2.2722
Bangun, C. G., Mafiana, R., & Gaus, S. (2019). Manajemen Anestesi untuk Tindakan Vp-Shunt pada Bayi Sindrom Crouzon dengan Hidrosefalus. Jurnal Neuroanestesi Indonesia, 8(1), 44–49. https://doi.org/10.24244/jni.vol8i1.211
Bowling, E. L., & Burstein, F. D. (2006). Crouzon syndrome. Optometry (St. Louis, Mo.), 77(5), 217–222. https://doi.org/10.1016/j.optm.2006.03.005
Cohen, M. (2009). Craniosynostosis and syndromes 2009 Jun;19(5):318-20. J College Physicians Surg Pak, 19(5), 318–320.
Derderian, C., & Seaward, J. (2012). Syndromic Craniosynostosis. Seminars in Plastic Surgery, 26(2), 64–75. https://doi.org/10.1055/s-0032-1320064
Fauzi, A. A. (2022). Sindrom Kelainan Saraf: Penuntun Diagnosis Praktis (Vol. 43).
Helman, S. N., Badhey, A., Kadakia, S., & Myers, E. (2014). Revisiting Crouzon syndrome: Reviewing the background and management of a multifaceted disease. Oral and Maxillofacial Surgery, 18(4), 373–379. https://doi.org/10.1007/s10006-014-0467-0
Hughes, C., Thomas, K., Johnson, D., & Das, S. (2013). Anesthesia for surgery related to craniosynostosis: A review. Part 2. Paediatric Anaesthesia, 23(1), 22–27. https://doi.org/10.1111/j.1460-9592.2012.03922.x
Itoh, N., & Ornitz, D. M. (2004). Evolution of the Fgf and Fgfr gene families. Trends in Genetics: TIG, 20(11), 563–569. https://doi.org/10.1016/j.tig.2004.08.007
Kalanjiam, V., & Manoharan, G. V. M. G. (2017). Crouzon syndrome—A rare case report. International Journal of Health Sciences, 11(4), 74–75.
Kaushik, A., Bhatia, H., & Sharma, N. (2016). Crouzon’s Syndrome: A Rare Genetic Disorder. International Journal of Clinical Pediatric Dentistry, 9(4), 384–387. https://doi.org/10.5005/jp-journals-10005-1395
Kim, S., Spadafora, N., Volk, A. A., & Zhang, L. (2021). Disciplinary structure and teacher support in Chinese and Canadian schools.
Kumar, A., Goel, N., Sinha, C., & Singh, A. (2017). Anesthetic Implications in a Child with Crouzon Syndrome. Anesthesia, Essays and Researches, 11(1), 246–247. https://doi.org/10.4103/0259-1162.200234
Mapindra, M. P., & Mahindra, M. P. (2021). Clinical Features of Apert Syndrome in Infancy: A rare case in Indonesia. SCRIPTA SCORE Scientific Medical Journal, 2(2), 140–144. https://doi.org/10.32734/scripta.v2i2.4563
Neto, F. X. P., Palheta, A. C. P., & Monteiro, M. (2008). Crouzon’s Syndrome: Literature Review. Intl. Arch. Otorhinolaryngol, 12(3), 436–441.
Porto Junior, S., Meira, D. A., da Cunha, B. L. B., Fontes, J., Pustilnik, H. N., da Silva da Paz, M. G., Araujo, T. B., Alcântara, T., Dourado, J. C., & de Avellar, L. M. (2024). Endoscopic surgery for craniosynostosis: A systematic review and single-arm meta analysis. Clinical Neurology and Neurosurgery, 242, 108296. https://doi.org/10.1016/j.clineuro.2024.108296
Rosarina, D., & Soebagdjo, H. D. (2011). Crouzon Syndrome. Jurnal Oftalmologi Indonesia, 7(5).
Sari, D., Widyastuti, Y., & Hidayat, F. (2021). Manajemen Jalan Nafas pada Pasien dengan Sindroma Crouzon. Jurnal Komplikasi Anestesi, 8(3), 1–8. https://doi.org/10.22146/jka.v8i3.8369
Singh, G., Malik, S., & Kaur, J. (2017). Crouzon syndrome: A case report. International Journal of Contemporary Pediatrics, 5(1), 260. https://doi.org/10.18203/2349-3291.ijcp20175597
Susantri, M., Irmawati, M., Irwanto, Suryawan, A., & Hutagalung, M. R. (2025). Preoperative and Postoperative Evaluation of Growth and Development of Patients with Crouzon Syndrome: Case Series Aligned with SDG Health Goals. Journal of Lifestyle and SDGs Review, 5(2), 50–44. https://doi.org/10.47172/2965-730X.SDGsReview.v5.n02.pe05044
Talolena, H. W. M., Irmawati, M., & Hutagalung, M. R. (2021). Crouzon Syndrome: A Case Report. IJCRT: International Journal of Creative Research Thoughts, 9(9).
Widita, A., Hutagalung, M., & Putri, I. L. (2017). Profile of Syndromic Kraniosinostosis for 5 Years in RSUD dr.Soetomo Surabaya. Qanun Medika - Medical Journal Faculty of Medicine Muhammadiyah Surabaya, 1(02). https://doi.org/10.30651/qm.v1i02.555
Wilkie, A. O., Oldridge, M., Tang, Z., & Maxson, R. E. (2001). Craniosynostosis and related limb anomalies. Novartis Foundation Symposium, 232, 122–133; discussion 133-143. https://doi.org/10.1002/0470846658.ch9
Wilkinson, C. C., Manchester, D. K., Keating, R. F., Ketch, L. L., & Winston, K. R. (2012). Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails. Child’s Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery, 28(8), 1221–1226. https://doi.org/10.1007/s00381-012-1813-x