Three-dimensional measurement analysis of midface morphology in Treacher Collins syndromes_Chinese Journal of Reparative and Reconstructive Surgery

Authors：

LIN Yanxian , MA Xiaoyang , HUANG Yuanliang , MU Lin , YANG Liya , ZHAO Minghao , XIE Fang , ZHANG Chao , XU Jiajie , LU Jianjian ,  TENG Li

Department of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, 100144, P.R.China;

Corresponding author：

TENG Li, Email: tenglidr@sina.com

Keywords：

Treacher Collins syndrome; midface morphology; upper respiratory obstruction; three-dimensional measurement

DOI：

10.7507/1002-1892.202009004

Video：

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Objective To three-dimensionally calculate the craniofacial parameters of midface of patients with Treacher Collins syndrome (TCS) in China, in order to understand the changes in the spatial position relationship between the various anatomical structures of the midface.Methods CT imaging data of TCS patients and age- and gender-matched normal populations between January 2013 and July 2020 was retrospectively analyzed. A total of 33 cases met the selection criteria for inclusion in the study, including 14 cases in the TCS group and 19 cases in the control group. ProPlan CMF 3.0 software was used to perform three-dimensional digital reconstruction of the craniofacial bone, measure the anatomical parameters of the midface, and analyze its morphological structure; at the same time perform three-dimensional digital reconstruction of the upper airway for morphological analysis (measure upper airway volume).Results CT images analysis revealed that all 14 patients with TCS presented the typical features with downward slanting of the palpebral fissures and different degrees of zygomatico-orbital complex dysplasia. Cephalometric and morphological analysis of the midface revealed that, multiple transverse diameters of the midface of TCS patients were significantly decreased when compared with the control group (P<0.05), such as the width of the maxillary base, the length of the maxillary complex, and some distances related to the nasal morphology; but the distance between bilateral orbitales increased in TCS group (P<0.05). Several anteroposterior distances in TCS group were decreased significantly when compared to control group and the distance between the skull base point and the posterior nasal spine was the most shortened (P<0.05). But there was no significant difference of the distance between nasion and anterior nasal spine, which represented anterior midface height, between groups (P>0.05). The skull base angle and SNB angle (the angle between the sella point-nose root point-inferior alveolar seat point) of the TCS group both decreased when compared with the control group (P<0.05), but there was no significant difference in SNA angle (the angle between the sella point-nose root point-upper alveolar seat point) between the two groups (P>0.05). The total volume of the upper airway was (24 621.07±8 476.63) mm³ in the TCS group, which was significantly lower than that of the control group [(32 864.21±13 148.74) mm³] (t=2.185, P=0.037).Conclusion The transverse distances, anteroposterior distances, and multiple craniofacial angles measurement of TCS patients were significantly decreased when compared to the control group, presented with different degrees of zygomatico-orbital complex dysplasia, nasal and maxillary dysplasia, but there was no obvious restriction in face height development. Reduced internal diameters of the upper airway maybe responsible for the decreased upper airway volume of patients with TCS.

Citation： LIN Yanxian, MA Xiaoyang, HUANG Yuanliang, MU Lin, YANG Liya, ZHAO Minghao, XIE Fang, ZHANG Chao, XU Jiajie, LU Jianjian, TENG Li. Three-dimensional measurement analysis of midface morphology in Treacher Collins syndromes. Chinese Journal of Reparative and Reconstructive Surgery, 2021, 35(1): 86-94. doi: 10.7507/1002-1892.202009004 Copy

1.	Wolford LM, Perez DE. Surgical management of congenital deformities with temporomandibular joint malformation. Oral Maxillofac Surg Clin North Am, 2015, 27(1): 137-154.
2.	Vincent M, Geneviève D, Ostertag A, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med, 2016, 18(1): 49-56.
3.	Bartzela TN, Carels C, Maltha JC. Update on 13 syndromes affecting craniofacial and dental structures. Front Physiol, 2017, 8: 1038.
4.	殷斌, 石冰, 贾仲林. Treacher Collins 综合征的致病基因和临床治疗策略. 华西口腔医学杂志, 2019, 37(3): 330-335.
5.	Ghesh L, Vincent M, Delemazure AS, et al. Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. Am J Med Genet A, 2019, 179(7): 1390-1394.
6.	Anciuc M, Tripon F, Duicu C, et al. Genetic investigation and clinical aspects in a Romanian Treacher Collins syndrome family—A case report. Acta Marisiensis-Seria Medica, 2019, 65(4): 157-160.
7.	Li X, Su Y, Huang S, et al. Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome. Acta Otolaryngol, 2019, 139(7): 567-575.
8.	Serrano F, Bernard WG, Granata A, et al. A novel human pluripotent stem cell-derived neural crest model of treacher collins syndrome shows defects in cell death and migration. Stem Cells Dev, 2019, 28(2): 81-100.
9.	Sanchez E, Laplace-Builhé B, Mau-Them FT, et al. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med, 2020, 22(3): 547-556.
10.	Guo Y, Lopez J, Yang R, et al. The use of virtual surgical planning in total facial skeletal reconstruction of treacher collins syndrome: A case report. Craniomaxillofac Trauma Reconstr, 2018, 11(3): 230-237.
11.	Heo JW, Jin US. Contouring of zygomatic soft tissue using bilateral free groin flaps in a Treacher Collins syndrome patient. Arch Craniofac Surg, 2018, 19(2): 131-134.
12.	Niwa Y, Takeuchi M. Dams TuLip-I^TM is a useful device for performing fiberscopy-guided orotracheal intubation in a patient with Treacher Collins syndrome. J Clin Anesth, 2019, 56: 32-34.
13.	Kanemaru H, Tsurumaki T, Kurata S, et al. Endotracheal intubation complicated by a palatal tooth in a patient with treacher collins syndrome. Anesth Prog, Spring 2019, 66(1): 42-43.
14.	Lau MC, Kwong EM, Lai KP, et al. Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model. Biochim Biophys Acta, 2016, 1862(6): 1147-1158.
15.	Yan Z, Lu Y, Wang Y, et al. Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome. Exp Ther Med, 2018, 16(3): 2645-2650.
16.	祁佐良, 李青峰, 主编. 外科学: 整形外科分册. 北京: 人民卫生出版社, 2016: 197.
17.	Kurosaka H. Choanal atresia and stenosis: Development and diseases of the nasal cavity. Wiley Interdiscip Rev Dev Biol, 2019, 8(1): 1-15.
18.	Calandrelli R, Pilato F, Massimi L, et al. Quantitative evaluation of facial hypoplasia and airway obstruction in infants with syndromic craniosynostosis: relationship with skull base and splanchnocranium sutural pattern. Neuroradiology, 2018, 60(5): 517-528.
19.	Plomp RG, van Lieshout MJ, Joosten KF, et al. Treacher Collins Syndrome: A systematic review of evidence-based treatment and recommendations. Plast Reconstr Surg, 2016, 137(1): 191-204.
20.	Biskup NI, Pan BS, Elhadi-Babiker H, et al. Decannulation and airway outcomes with maxillomandibular distraction in treacher collins and nager syndrome. J Craniofac Surg, 2018, 29(3): 692-697.
21.	Gholinia F, Habibi L, Amrollahi Boyouki M. Cephalometric evaluation of the upper airway in different skeletal classifications of jaws. J Craniofac Surg, 2019, 30(5): e469-e474.
22.	Plomp RG, Bredero-Boelhouwer HH, Joosten KF, et al. Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause. Int J Oral Maxillofac Surg, 2012, 41(6): 696-701.
23.	Savoldi F, Xinyue G, McGrath CP, et al. Reliability of lateral cephalometric radiographs in the assessment of the upper airway in children: A retrospective study. Angle Orthod, 2020, 90(1): 47-55.
24.	Mohamed RN, Basha S, Al-Thomali Y. Changes in upper airway dimensions following orthodontic treatment of skeletal class Ⅱ malocclusion with twin block appliance: A systematic review. Turk J Orthod, 2020, 33(1): 59-64.
25.	Xu L, Keenan BT, Wiemken AS, et al. Differences in three-dimensional upper airway anatomy between Asian and European patients with obstructive sleep apnea. Sleep, 2020, 43(5): zsz273.
26.	Niu X, Di Carlo G, Cornelis MA, et al. Three-dimensional analyses of short- and long-term effects of rapid maxillary expansion on nasal cavity and upper airway: A systematic review and meta-analysis. Orthod Craniofac Res, 2020, 23(3): 250-276.
27.	Firincioglulari M, Aksoy S, Orhan K, et al. Comparison of anterior mandible anatomical characteristics between obstructive sleep apnea patients and healthy individuals: a combined cone beam computed tomography and polysomnographic study. Eur Arch Otorhinolaryngol, 2020, 277(5): 1427-1436.
28.	Parsi GK, Alsulaiman AA, Kotak B, et al. Volumetric changes of the upper airway following maxillary and mandibular advancement using cone beam computed tomography. Int J Oral Maxillofac Surg, 2019, 48(2): 203-210.
29.	Heinz J, Stewart K, Ghoneima A. Evaluation of two-dimensional lateral cephalogram and three-dimensional cone beam computed tomography superimpositions: a comparative study. Int J Oral Maxillofac Surg, 2019, 48(4): 519-525.
30.	Ma X, Forte AJ, Berlin NL, et al. Reduced three-dimensional nasal airway volume in treacher collins syndrome and its association with craniofacial morphology. Plast Reconstr Surg, 2015, 135(5): 885e-894e.
31.	Kato RM, Moura PP, Zechi-Ceide RM, et al. Comparison between treacher collins syndrome and pierre robin sequence: A cephalometric study. Cleft Palate Craniofac J, 2020: 1055665620937499.
32.	Ma X, Forte AJ, Persing JA, et al. Reduced three-dimensional airway volume is a function of skeletal dysmorphology in Treacher Collins syndrome. Plast Reconstr Surg, 2015, 135(2): 382e-392e.
33.	Ligh CA, Swanson J, Yu JW, et al. A morphological classification scheme for the mandibular hypoplasia in treacher collins syndrome. J Craniofac Surg, 2017, 28(3): 683-687.
34.	Dalla Torre D, Burtscher D, Widmann G, et al. Long-term influence of mandibular advancement on the volume of the posterior airway in skeletal Class Ⅱ-patients: a retrospective analysis. Br J Oral Maxillofac Surg, 2017, 55(8): 780-786.
35.	Apolloni F, De Leonardis L, Sagron M, et al. Mandible customized distraction osteogenesis in Treacher Collins patient: Literature review, report of a case and post-distraction analysis. Interdisciplinary Neurosurgery, 2020, 21: 100769.
36.	Hopper RA, Kapadia H, Susarla S, et al. Counterclockwise craniofacial distraction osteogenesis for tracheostomy-dependent children with treacher collins syndrome. Plast Reconstr Surg, 2018, 142(2): 447-457.

1. Wolford LM, Perez DE. Surgical management of congenital deformities with temporomandibular joint malformation. Oral Maxillofac Surg Clin North Am, 2015, 27(1): 137-154.
2. Vincent M, Geneviève D, Ostertag A, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med, 2016, 18(1): 49-56.
3. Bartzela TN, Carels C, Maltha JC. Update on 13 syndromes affecting craniofacial and dental structures. Front Physiol, 2017, 8: 1038.
4. 殷斌, 石冰, 贾仲林. Treacher Collins 综合征的致病基因和临床治疗策略. 华西口腔医学杂志, 2019, 37(3): 330-335.
5. Ghesh L, Vincent M, Delemazure AS, et al. Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. Am J Med Genet A, 2019, 179(7): 1390-1394.
6. Anciuc M, Tripon F, Duicu C, et al. Genetic investigation and clinical aspects in a Romanian Treacher Collins syndrome family—A case report. Acta Marisiensis-Seria Medica, 2019, 65(4): 157-160.
7. Li X, Su Y, Huang S, et al. Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome. Acta Otolaryngol, 2019, 139(7): 567-575.
8. Serrano F, Bernard WG, Granata A, et al. A novel human pluripotent stem cell-derived neural crest model of treacher collins syndrome shows defects in cell death and migration. Stem Cells Dev, 2019, 28(2): 81-100.
9. Sanchez E, Laplace-Builhé B, Mau-Them FT, et al. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med, 2020, 22(3): 547-556.
10. Guo Y, Lopez J, Yang R, et al. The use of virtual surgical planning in total facial skeletal reconstruction of treacher collins syndrome: A case report. Craniomaxillofac Trauma Reconstr, 2018, 11(3): 230-237.
11. Heo JW, Jin US. Contouring of zygomatic soft tissue using bilateral free groin flaps in a Treacher Collins syndrome patient. Arch Craniofac Surg, 2018, 19(2): 131-134.
12. Niwa Y, Takeuchi M. Dams TuLip-I^TM is a useful device for performing fiberscopy-guided orotracheal intubation in a patient with Treacher Collins syndrome. J Clin Anesth, 2019, 56: 32-34.
13. Kanemaru H, Tsurumaki T, Kurata S, et al. Endotracheal intubation complicated by a palatal tooth in a patient with treacher collins syndrome. Anesth Prog, Spring 2019, 66(1): 42-43.
14. Lau MC, Kwong EM, Lai KP, et al. Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model. Biochim Biophys Acta, 2016, 1862(6): 1147-1158.
15. Yan Z, Lu Y, Wang Y, et al. Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome. Exp Ther Med, 2018, 16(3): 2645-2650.
16. 祁佐良, 李青峰, 主编. 外科学: 整形外科分册. 北京: 人民卫生出版社, 2016: 197.
17. Kurosaka H. Choanal atresia and stenosis: Development and diseases of the nasal cavity. Wiley Interdiscip Rev Dev Biol, 2019, 8(1): 1-15.
18. Calandrelli R, Pilato F, Massimi L, et al. Quantitative evaluation of facial hypoplasia and airway obstruction in infants with syndromic craniosynostosis: relationship with skull base and splanchnocranium sutural pattern. Neuroradiology, 2018, 60(5): 517-528.
19. Plomp RG, van Lieshout MJ, Joosten KF, et al. Treacher Collins Syndrome: A systematic review of evidence-based treatment and recommendations. Plast Reconstr Surg, 2016, 137(1): 191-204.
20. Biskup NI, Pan BS, Elhadi-Babiker H, et al. Decannulation and airway outcomes with maxillomandibular distraction in treacher collins and nager syndrome. J Craniofac Surg, 2018, 29(3): 692-697.
21. Gholinia F, Habibi L, Amrollahi Boyouki M. Cephalometric evaluation of the upper airway in different skeletal classifications of jaws. J Craniofac Surg, 2019, 30(5): e469-e474.
22. Plomp RG, Bredero-Boelhouwer HH, Joosten KF, et al. Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause. Int J Oral Maxillofac Surg, 2012, 41(6): 696-701.
23. Savoldi F, Xinyue G, McGrath CP, et al. Reliability of lateral cephalometric radiographs in the assessment of the upper airway in children: A retrospective study. Angle Orthod, 2020, 90(1): 47-55.
24. Mohamed RN, Basha S, Al-Thomali Y. Changes in upper airway dimensions following orthodontic treatment of skeletal class Ⅱ malocclusion with twin block appliance: A systematic review. Turk J Orthod, 2020, 33(1): 59-64.
25. Xu L, Keenan BT, Wiemken AS, et al. Differences in three-dimensional upper airway anatomy between Asian and European patients with obstructive sleep apnea. Sleep, 2020, 43(5): zsz273.
26. Niu X, Di Carlo G, Cornelis MA, et al. Three-dimensional analyses of short- and long-term effects of rapid maxillary expansion on nasal cavity and upper airway: A systematic review and meta-analysis. Orthod Craniofac Res, 2020, 23(3): 250-276.
27. Firincioglulari M, Aksoy S, Orhan K, et al. Comparison of anterior mandible anatomical characteristics between obstructive sleep apnea patients and healthy individuals: a combined cone beam computed tomography and polysomnographic study. Eur Arch Otorhinolaryngol, 2020, 277(5): 1427-1436.
28. Parsi GK, Alsulaiman AA, Kotak B, et al. Volumetric changes of the upper airway following maxillary and mandibular advancement using cone beam computed tomography. Int J Oral Maxillofac Surg, 2019, 48(2): 203-210.
29. Heinz J, Stewart K, Ghoneima A. Evaluation of two-dimensional lateral cephalogram and three-dimensional cone beam computed tomography superimpositions: a comparative study. Int J Oral Maxillofac Surg, 2019, 48(4): 519-525.
30. Ma X, Forte AJ, Berlin NL, et al. Reduced three-dimensional nasal airway volume in treacher collins syndrome and its association with craniofacial morphology. Plast Reconstr Surg, 2015, 135(5): 885e-894e.
31. Kato RM, Moura PP, Zechi-Ceide RM, et al. Comparison between treacher collins syndrome and pierre robin sequence: A cephalometric study. Cleft Palate Craniofac J, 2020: 1055665620937499.
32. Ma X, Forte AJ, Persing JA, et al. Reduced three-dimensional airway volume is a function of skeletal dysmorphology in Treacher Collins syndrome. Plast Reconstr Surg, 2015, 135(2): 382e-392e.
33. Ligh CA, Swanson J, Yu JW, et al. A morphological classification scheme for the mandibular hypoplasia in treacher collins syndrome. J Craniofac Surg, 2017, 28(3): 683-687.
34. Dalla Torre D, Burtscher D, Widmann G, et al. Long-term influence of mandibular advancement on the volume of the posterior airway in skeletal Class Ⅱ-patients: a retrospective analysis. Br J Oral Maxillofac Surg, 2017, 55(8): 780-786.
35. Apolloni F, De Leonardis L, Sagron M, et al. Mandible customized distraction osteogenesis in Treacher Collins patient: Literature review, report of a case and post-distraction analysis. Interdisciplinary Neurosurgery, 2020, 21: 100769.
36. Hopper RA, Kapadia H, Susarla S, et al. Counterclockwise craniofacial distraction osteogenesis for tracheostomy-dependent children with treacher collins syndrome. Plast Reconstr Surg, 2018, 142(2): 447-457.

Chinese Journal of Reparative and Reconstructive Surgery

Three-dimensional measurement analysis of midface morphology in Treacher Collins syndromes

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