A clinical review with special focus on craniofacial duplication_Chinese Journal of Reparative and Reconstructive Surgery

Authors：

 LI Chenxi ^1,2,3 , CHEN Yan ⁴ , GUO Chao ⁵ , GONG Zhongcheng ^1,6 , SIQIN Gaowa ⁷ , DING Mingchao ⁸ , LIU Hui ⁹ , HUANG Dishu ¹⁰

1. Department of Oral and Maxillofacial Oncology & Surgery, School/Hospital of Stomatology, the First Affiliated Hospital of Xinjiang Medical University & Stomatological Research Institute of Xinjiang Uygur Autonomous Region, Urumqi Xinjiang, 830054, P. R. China;
2. Affiliated Stomatological Hospital of Nanjing Medical University & Jiangsu Province Engineering Research Center of Stomatological Translational Medicine, Nanjing Jiangsu, 210029, P. R. China;
3. Guanghua School of Stomatology, Sun Yat-sen University & Hospital of Stomatology, Sun Yat-sen University & Guangdong Provincial Key Laboratory of Oral Diseases, Guangzhou Guangdong, 510080, P. R. China;
4. Department of Pediatric Dentistry & Department of Preventive Dentistry, School/Hospital of Stomatology, the First Affiliated Hospital of Xinjiang Medical University, Urumqi Xinjiang, 830054, P. R. China;
5. Department of Orthodontics, the First Affiliated Hospital of Shihezi University School of Medicine, Shihezi Xinjiang, 832008, P. R. China;
6. College of General Practice, Xinjiang Medical University, Urumqi Xinjiang, 830017, P. R. China;
7. Department of Oral Radiology, School/Hospital of Stomatology, the First Affiliated Hospital of Xinjiang Medical University. Urumqi Xinjiang, 830054, P. R. China;
8. State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration & National Clinical Research Center for Oral Diseases & Shaanxi Clinical Research Center for Oral Diseases & Department of Maxillofacial Surgery, School of Stomatology, the Fourth Military Medical University, Xi’an Shaanxi, 710032, P. R. China;
9. Department of Oral and Maxillofacial Surgery, Shanghai Stomatological Hospital & School of Stomatology, Fudan University & Shanghai Key Laboratory of Craniomaxillofacial Development and Diseases, Shanghai, 200031, P. R. China;
10. Department of Neurology, Children’s Hospital of Chongqing Medical University & National Clinical Research Center for Child Health and Disorders & China International Science and Technology Cooperation Base of Child Development and Critical Disorders & Ministry of Education Key Laboratory of Child Development and Disorders & Chongqing Key Laboratory of Pediatrics, Chongqing, 400014, P. R. China;

Corresponding?author：

LI Chenxi, Email: lichenxi@xjmu.edu.cn

Keywords：

Craniofacial duplication; jaw deformity; congenital dental and maxillofacial malformation; combined orthodontic-orthognathic treatment; sequential therapy; digital surgery

DOI：

10.7507/1002-1892.202603085

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Objective To review the clinical research progress of craniofacial duplication, improve clinicians’ recognition of this disease, and provide theoretical basis and practical references for its precise diagnosis and individualized treatment. Methods Recent domestic and international literature on craniofacial duplication as well as the diagnosis and treatment experiences of clinical cases in our team were reviewed. A comprehensive elaboration was conducted from embryonic development, etiological hypotheses, clinical classification, imaging manifestations, multidisciplinary diagnosis and treatment strategies, and prognostic follow-up. Special focus was placed on summarizing clinical features of jaw duplication, characteristics of occlusal disorder, and sequential orthodontic-orthognathic combined therapy. Results Craniofacial duplication is an extremely rare congenital craniofacial developmental malformation with highly heterogeneous phenotypes, involving multiple structures including lips, oral cavity, maxilla, and mandible. It is often complicated by cleft lip and palate, cervical vertebral fusion, hypertelorism, muscular dysfunction and other deformities, severely impairing patients’ mastication, phonation, deglutition, and facial aesthetics. Due to its extremely low incidence, scattered reported cases, and unclear pathogenesis, unified diagnostic criteria and therapeutic specifications have not been established worldwide. Developmental disorders of pharyngeal arches and cranial neural crest cells at embryonic weeks 4-8 are the core pathogenic trigger. The five etiological hypotheses have limited evidence levels, and no single theory can explain all clinical subtypes. The PAX7 gene variant identified by our team only serves as a genetic clue without functional verification to confirm its pathogenicity. The modified Hamberis 3-type classification and Sun 4-type mandibular duplication classification can clearly define the lesion scope, with matched surgical procedures, orthodontic regimens and recurrence risks for each subtype. Cone-beam computed tomography (CBCT) combined with three-dimensional reconstruction acts as the gold standard for diagnosis, and multidisciplinary sequential therapy can ameliorate facial appearance and oral function. Nevertheless, long-term follow-up data are scarce, and clinical management mainly relies on individualized experiences of clinicians. Conclusion Craniofacial duplication features complicated pathogenesis characterized by duplicated jaws, lips, and dental arches, with dysregulated development of embryonic pharyngeal arches and cranial neural crest cells as the core inducement. CBCT three-dimensional reconstruction enables accurate diagnosis, and multidisciplinary sequential therapy represents the optimal intervention strategy. Shortcomings including scarce clinical cases, unidentified pathogenic genes, absent standardized therapeutic protocols and insufficient long-term follow-up evidence remain prominent. Future research directions include constructing a multi-center case registry, conducting functional research on pathogenic genes, popularizing digital diagnosis and treatment techniques, and formulating standardized diagnostic and therapeutic guidelines. For pediatric patients with suspected malformations, CBCT examination should be performed as early as possible, and the principle of early diagnosis, early planning and early intervention shall be followed to restore oral function and optimize maxillofacial appearance.

Citation： LI Chenxi, CHEN Yan, GUO Chao, GONG Zhongcheng, SIQIN Gaowa, DING Mingchao, LIU Hui, HUANG Dishu. A clinical review with special focus on craniofacial duplication. Chinese Journal of Reparative and Reconstructive Surgery, 2026, 40(9): 1444-1451. doi: 10.7507/1002-1892.202603085 Copy

1.	Li CX, Huang DS, Gong ZC. Duplicated, translocated upper lip and maxilla: an extremely rare congenital craniofacial anomaly with novel genetic findings[J]. J Oral Pathol Med, 2026, 55(5): 605-610.
2.	李晨曦, 龔忠誠, 張新華, 等. 罕見單側完全性唇裂伴上頜骨復制畸形1例及文獻系統綜述[J/OL]. 中華口腔醫學研究雜志(電子版), 2025, 19(2): 119-123. doi: 10.3877/cma.j.issn.1674-1366.2025.02.006.
3.	王淳藝, 李精韜. 罕見下頜骨及下唇復制畸形1例及相關文獻回顧[J]. 國際口腔醫學雜志, 2023, 50(4): 452-456.
4.	Costa MA, Borzabadi-Farahani A, Lara-Sanchez PA, et al. Partial craniofacial duplication: A review of the literature and case report[J]. J Craniomaxillofac Surg, 2014, 42(4): 290-296.
5.	盧境婷, 王旭東, 代杰文, 等. 顱神經嵴細胞的遷移及特性[J/OL]. 中華口腔醫學研究雜志(電子版), 2011, 5(6): 652-657. doi: 10.3877/cma.j.issn.1674-1366.2011.06.016.
6.	Ono T. Immune involvement in the development and maintenance of oral and craniofacial bones[J]. Adv Exp Med Biol, 2026, 1492: 529-545.
7.	Shen Z, Zhang R, Chen X, et al. An atlas of early human mandibular endochondral and osteogenic paracrine signaling regions of Meckel's cartilage[J/OL]. Proc Natl Acad Sci U S A, 2025, 122(12): e2420466122. doi: 10.1073/pnas.2420466122.
8.	Rabe SE, Daya M, Madaree A. Diprosopus: a review of the aetiology and case report of early surgery in a 7-week-old infant with partial facial duplication[J]. Eur J Plast Surg, 2019, 42(3): 213-222.
9.	Trevisani V, Balestri E, Napoli M, et al. Diprosopus: a rare case of craniofacial duplication and a systematic review of the literature[J/OL]. Genes (Basel), 2023, 14(9): 1745. doi: 10.3390/genes14091745.
10.	Kyrkanides S, Kambylafkas P, Miller JH, et al. The cranial base in craniofacial development: a gene therapy study[J]. J Dent Res, 2007, 86(10): 956-961.
11.	Li CX, Huang DS, Gong ZC. A newly discovered PAX7 variant associated with craniofacial duplication: a case report[J/OL]. BMC Pregnancy Childbirth, 2026. doi: 10.1186/s12884-026-09292-x.
12.	Hamberis AO, Macias D, Clemmens C, et al. Duplication of the oral cavity and mandible: a rare congenital craniofacial anomaly[J/OL]. BMJ Case Rep, 2020, 13(5): e233799. doi: 10.1136/bcr-2019-233799.
13.	Sun L, Sun Z, Ma X. Partial duplication of the mandible, parotid aplasia and facial cleft: a rare developmental disorder[J/OL]. Oral Surg Oral Med Oral Pathol Oral Radiol, 2013, 116(3): e202-e209. doi: 10.1016/j.oooo.2012.11.021.

1. Li CX, Huang DS, Gong ZC. Duplicated, translocated upper lip and maxilla: an extremely rare congenital craniofacial anomaly with novel genetic findings[J]. J Oral Pathol Med, 2026, 55(5): 605-610.
2. 李晨曦, 龔忠誠, 張新華, 等. 罕見單側完全性唇裂伴上頜骨復制畸形1例及文獻系統綜述[J/OL]. 中華口腔醫學研究雜志(電子版), 2025, 19(2): 119-123. doi: 10.3877/cma.j.issn.1674-1366.2025.02.006.
3. 王淳藝, 李精韜. 罕見下頜骨及下唇復制畸形1例及相關文獻回顧[J]. 國際口腔醫學雜志, 2023, 50(4): 452-456.
4. Costa MA, Borzabadi-Farahani A, Lara-Sanchez PA, et al. Partial craniofacial duplication: A review of the literature and case report[J]. J Craniomaxillofac Surg, 2014, 42(4): 290-296.
5. 盧境婷, 王旭東, 代杰文, 等. 顱神經嵴細胞的遷移及特性[J/OL]. 中華口腔醫學研究雜志(電子版), 2011, 5(6): 652-657. doi: 10.3877/cma.j.issn.1674-1366.2011.06.016.
6. Ono T. Immune involvement in the development and maintenance of oral and craniofacial bones[J]. Adv Exp Med Biol, 2026, 1492: 529-545.
7. Shen Z, Zhang R, Chen X, et al. An atlas of early human mandibular endochondral and osteogenic paracrine signaling regions of Meckel's cartilage[J/OL]. Proc Natl Acad Sci U S A, 2025, 122(12): e2420466122. doi: 10.1073/pnas.2420466122.
8. Rabe SE, Daya M, Madaree A. Diprosopus: a review of the aetiology and case report of early surgery in a 7-week-old infant with partial facial duplication[J]. Eur J Plast Surg, 2019, 42(3): 213-222.
9. Trevisani V, Balestri E, Napoli M, et al. Diprosopus: a rare case of craniofacial duplication and a systematic review of the literature[J/OL]. Genes (Basel), 2023, 14(9): 1745. doi: 10.3390/genes14091745.
10. Kyrkanides S, Kambylafkas P, Miller JH, et al. The cranial base in craniofacial development: a gene therapy study[J]. J Dent Res, 2007, 86(10): 956-961.
11. Li CX, Huang DS, Gong ZC. A newly discovered PAX7 variant associated with craniofacial duplication: a case report[J/OL]. BMC Pregnancy Childbirth, 2026. doi: 10.1186/s12884-026-09292-x.
12. Hamberis AO, Macias D, Clemmens C, et al. Duplication of the oral cavity and mandible: a rare congenital craniofacial anomaly[J/OL]. BMJ Case Rep, 2020, 13(5): e233799. doi: 10.1136/bcr-2019-233799.
13. Sun L, Sun Z, Ma X. Partial duplication of the mandible, parotid aplasia and facial cleft: a rare developmental disorder[J/OL]. Oral Surg Oral Med Oral Pathol Oral Radiol, 2013, 116(3): e202-e209. doi: 10.1016/j.oooo.2012.11.021.

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