Progress in clinical manifestations and treatment of Poland syndrome_West China Medical Journal

Authors：

YU Yue ,  CEN Ying

Department of Plastic and Burn Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China;

Corresponding author：

CEN Ying, Email: cenyinghx@163.com

Keywords：

Poland syndrome; thoracic deformity; syndactyly; classification standards; clinical treatment

DOI：

10.7507/1002-0179.202305119

Video：

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Poland syndrome is a congenital anomaly characterized by unilateral underdeveloped or absent chest wall, accompanied by varying degrees of ipsilateral limb defects. In clinical practice, Poland syndrome is prone to misdiagnosis and missed diagnosis, which delays treatment timing and affects treatment effectiveness, as the current etiology is not yet clear and there is no unified and standardized clinical classification and treatment plan. This article summarizes and elaborates on the etiology, clinical manifestations, classification, diagnosis, and treatment of Poland syndrome by reviewing relevant literature on the diagnosis and treatment of Poland syndrome both domestically and internationally in recent years, in order to enhance understanding of Poland syndrome, provide reference for standardized clinical diagnosis and treatment, and improve the efficiency of diagnosis and treatment.

Citation： YU Yue, CEN Ying. Progress in clinical manifestations and treatment of Poland syndrome. West China Medical Journal, 2023, 38(9): 1417-1422. doi: 10.7507/1002-0179.202305119 Copy

1.	Hashim EAA, Quek BH, Chandran S. A narrative review of Poland’s syndrome: theories of its genesis, evolution and its diagnosis and treatment. Transl Pediatr, 2021, 10(4): 1008-1019.
2.	Parenti VG, Liu X, Mehta A, et al. Imaging findings in Möbius-Poland syndrome. Radiol Case Rep, 2020, 15(4): 379-381.
3.	Baldelli I, Baccarani A, Barone C, et al. Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence). Orphanet J Rare Dis, 2020, 15(1): 201.
4.	Essobiyou TB, Labou KA, Kouevi-Koko TE, et al. Poland syndrome: fortuitous discovery of a familial case in Togo. Int J Surg Case Rep, 2023, 106: 108281.
5.	Bavinck JN, Weaver DD. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies. Am J Med Genet, 1986, 23(4): 903-918.
6.	欧阳熠烨. 基于三维数字化数据的 Poland 综合征形态学分析及 Poland 综合征胸壁畸形矫正的临床研究. 北京: 中国医学科学院, 2022.
7.	Al Faleh K, Al Saadi M, Khalid-Bantuas S. Poland’s syndrome with absent limb anomalies. J Clin Neonatol, 2014, 3(1): 44-46.
8.	Romanini MV, Calevo MG, Puliti A, et al. Poland syndrome: a proposed classification system and perspectives on diagnosis and treatment. Semin Pediatr Surg, 2018, 27(3): 189-199.
9.	Miltiadous A, Demetriou P, Kyriakou M, et al. A de novo SFMBT1 pathogenic variant identified in a boy with Poland syndrome. Cold Spring Harb Mol Case Stud, 2022, 8(3): a006168.
10.	Glass GE, Mohammedali S, Sivakumar B, et al. Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review. BMC Pediatr, 2022, 22(1): 745.
11.	Vaccari CM, Tassano E, Torre M, et al. Assessment of copy number variations in 120 patients with Poland syndrome. BMC Med Genet, 2016, 17(1): 89.
12.	关函洲, 张新华, 乔宇. 新生儿 Poland 综合征合并食管闭锁一例. 中国药物与临床, 2020, 20(24): 4215-4216.
13.	Chandran S, Revanna KG, Ari D, et al. Lung herniation: an uncommon presentation of Poland’s syndrome in a neonate at birth. BMJ Case Rep, 2013, 2013: bcr2013200106.
14.	Romanini MV, Torre M, Santi P, et al. Proposal of the TBN classification of thoracic anomalies and treatment algorithm for Poland syndrome. Plast Reconstr Surg, 2016, 138(1): 50-58.
15.	钟文耀, 田文, 赵俊会, 等. Poland 综合征上肢畸形的临床分析. 中国骨与关节杂志, 2017, 6(4): 248-251.
16.	Al-Qattan MM. Classification of hand anomalies in Poland’s syndrome. Br J Plast Surg, 2001, 54(2): 132-136.
17.	Catena N, Divizia MT, Calevo MG, et al. Hand and upper limb anomalies in Poland syndrome: a new proposal of classification. J Pediatr Orthop, 2012, 32(7): 727-731.
18.	Baas M, Burger EB, Sneiders D, et al. Controversies in Poland syndrome: alternative diagnoses in patients with congenital pectoral muscle deficiency. J Hand Surg Am, 2018, 43(2): 186.e1-186.e16.
19.	Ozkok S, Erol N, Onal C, et al. Left-sided Poland’s syndrome associated with dextrocardia. North Clin Istanb, 2018, 6(2): 192-195.
20.	Torre M, Baban A, Buluggiu A, et al. Dextrocardia in patients with Poland syndrome: phenotypic characterization provides insight into the pathogenesis. J Thorac Cardiovasc Surg, 2010, 139(5): 1177-1182.
21.	Corella Aznar EG, Ayerza Casas A, Palanca Arias D, et al. Cardiac dextroposition associated to Poland syndrome. Med Clin (Barc), 2021, 156(3): 151-152.
22.	Fraser FC, Teebi AS, Walsh S, et al. Poland sequence with dextrocardia: which comes first?. Am J Med Genet, 1997, 73(2): 194-196.
23.	Çetin T, Pay L, Kamber T, et al. Primary right atrial cardiac angiosarcoma in patient with Poland syndrome: case report and review of the literature. Turk Kardiyol Dern Ars, 2023, 51(3): 212-216.
24.	杨培丽, 张云鹤, 钟建卫, 等. Mobius 综合征中文文献计量学分析. 武警医学, 2019, 30(8): 676-679, 683.
25.	Telich-Tarriba JE, Navarro-Barquin DF, Verdezoto-Gaibor K, et al. Prevalence of hand malformations in patients with Moebius syndrome and their management. Hand (N Y), 2022, 17(6): 1292-1296.
26.	Erol M, Caksen H, Tan O, et al. Report of a girl with Klippel-feil syndrome and Poland anomaly. Genet Couns, 2004, 15(4): 469-472.
27.	Wang J, Tang D, Yao Y, et al. Poland syndrome associated with lung cancer: a case report. Asian J Surg, 2023, 46(3): 1459-1460.
28.	Huang Y, Pang H, Jin S, et al. Clinical characteristics of Poland’s syndrome associated with breast cancer: two case reports and a literature review. J Cancer Res Ther, 2018, 14(7): 1665-1669.
29.	崔丽园, 张立山, 亓恒涛, 等. 高频超声对 Poland 综合征的诊断价值. 中华超声影像学杂志, 2022, 31(2): 157-160.
30.	Baldelli I, Santi P, Dova L, et al. Body image disorders and surgical timing in patients affected by Poland syndrome: data analysis of 58 case studies. Plast Reconstr Surg, 2016, 137(4): 1273-1282.
31.	Manzano Surroca M, Parri F, Tarrado X. Poland sequence: retrospective analysis of 66 cases. Ann Plast Surg, 2019, 82(5): 499-511.
32.	Fokin AA, Robicsek F. Poland’s syndrome revisited. Ann Thorac Surg, 2002, 74(6): 2218-2225.
33.	Delay E, Nachaoui H, Frobert P. Poland’s syndrome. Ann Chir Plast Esthet, 2022, 67(5/6): 358-373.
34.	张昊, 沈卫民, 崔杰, 等. 计算机辅助游离脂肪移植治疗儿童 Poland 综合征胸部软组织畸形的效果. 中华整形外科杂志, 2022, 38(12): 1384-1389.
35.	Moon KC, Yeo HD, Yoon ES, et al. Robotic-assisted latissimus dorsi muscle flap for autologous chest reconstruction in poland syndrome. J Plast Reconstr Aesthet Surg, 2020, 73(8): 1506-1513.
36.	Ouyang Y, Xu B, Luan J, et al. Chest wall reconstruction in male Poland syndrome patients with endoscopic-assisted latissimus dorsi muscle flap transfer. J Plast Reconstr Aesthet Surg, 2021, 74(11): 3141-3149.
37.	谢江淼, 张文超, 夏泽楠, 等. 横行股薄肌肌皮瓣联合自体脂肪移植修复 Poland 综合征胸壁畸形一例. 中国美容整形外科杂志, 2022, 33(11): 699-700.
38.	Delay E, Nachaoui H. Lipomodeling for congenital breast deformities: technique, results and indications. Ann Chir Plast Esthet, 2022, 67(5/6): 319-334.
39.	Chavoin JP, Gandolfi S, Leyx P, et al. Breasts and congenital chest-wall deformities: surgical strategy with 3D implants. Ann Chir Plast Esthet, 2022, 67(5/6): 404-413.
40.	Sanna S, Brandolini J, Pardolesi A, et al. Materials and techniques in chest wall reconstruction: a review. J Vis Surg, 2017, 3: 95.
41.	Young JS, McAllister M, Marshall MB. Three-dimensional technologies in chest wall resection and reconstruction. J Surg Oncol, 2023, 127(2): 336-342.
42.	向朝成, 李德全. 乳头乳晕再造新进展. 中国美容整形外科杂志, 2022, 33(11): 704, 后插 1-后插 3.
43.	Cabrera-Gonzalez M, Gutierrez-de la Iglesia D, Fontecha CG, et al. Poland syndrome: a new classification system based on a retrospective analysis of 74 cases. J Hand Surg Eur Vol, 2022, 47(10): 1027-1031.
44.	商浩, 张放, 罗鹏远, 等. 15 例 Poland 综合征并指畸形修复. 中国美容医学, 2021, 30(7): 1-4.
45.	杨光, 田晓菲. 并指分指术中重建指蹼皮瓣的临床进展. 中华整形外科杂志, 2020, 36(12): 1405-1410.
46.	张柯, 王开江, 汪建国, 等. 先天性上尺桡关节融合治疗 2 例. 实用手外科杂志, 2021, 35(1): 135-136.
47.	徐鑫鑫, 袁思, 孙西涛, 等. 改良 Woodward 术式联合锁骨截骨术治疗 Sprengel 畸形 1 例. 中国骨伤, 2023, 36(3): 271-273.
48.	钟文耀, 田文, 李淳, 等. Poland 综合征伴腋蹼畸形的治疗. 中华手外科杂志, 2017, 33(3): 193-195.

1. Hashim EAA, Quek BH, Chandran S. A narrative review of Poland’s syndrome: theories of its genesis, evolution and its diagnosis and treatment. Transl Pediatr, 2021, 10(4): 1008-1019.
2. Parenti VG, Liu X, Mehta A, et al. Imaging findings in Möbius-Poland syndrome. Radiol Case Rep, 2020, 15(4): 379-381.
3. Baldelli I, Baccarani A, Barone C, et al. Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence). Orphanet J Rare Dis, 2020, 15(1): 201.
4. Essobiyou TB, Labou KA, Kouevi-Koko TE, et al. Poland syndrome: fortuitous discovery of a familial case in Togo. Int J Surg Case Rep, 2023, 106: 108281.
5. Bavinck JN, Weaver DD. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies. Am J Med Genet, 1986, 23(4): 903-918.
6. 欧阳熠烨. 基于三维数字化数据的 Poland 综合征形态学分析及 Poland 综合征胸壁畸形矫正的临床研究. 北京: 中国医学科学院, 2022.
7. Al Faleh K, Al Saadi M, Khalid-Bantuas S. Poland’s syndrome with absent limb anomalies. J Clin Neonatol, 2014, 3(1): 44-46.
8. Romanini MV, Calevo MG, Puliti A, et al. Poland syndrome: a proposed classification system and perspectives on diagnosis and treatment. Semin Pediatr Surg, 2018, 27(3): 189-199.
9. Miltiadous A, Demetriou P, Kyriakou M, et al. A de novo SFMBT1 pathogenic variant identified in a boy with Poland syndrome. Cold Spring Harb Mol Case Stud, 2022, 8(3): a006168.
10. Glass GE, Mohammedali S, Sivakumar B, et al. Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review. BMC Pediatr, 2022, 22(1): 745.
11. Vaccari CM, Tassano E, Torre M, et al. Assessment of copy number variations in 120 patients with Poland syndrome. BMC Med Genet, 2016, 17(1): 89.
12. 关函洲, 张新华, 乔宇. 新生儿 Poland 综合征合并食管闭锁一例. 中国药物与临床, 2020, 20(24): 4215-4216.
13. Chandran S, Revanna KG, Ari D, et al. Lung herniation: an uncommon presentation of Poland’s syndrome in a neonate at birth. BMJ Case Rep, 2013, 2013: bcr2013200106.
14. Romanini MV, Torre M, Santi P, et al. Proposal of the TBN classification of thoracic anomalies and treatment algorithm for Poland syndrome. Plast Reconstr Surg, 2016, 138(1): 50-58.
15. 钟文耀, 田文, 赵俊会, 等. Poland 综合征上肢畸形的临床分析. 中国骨与关节杂志, 2017, 6(4): 248-251.
16. Al-Qattan MM. Classification of hand anomalies in Poland’s syndrome. Br J Plast Surg, 2001, 54(2): 132-136.
17. Catena N, Divizia MT, Calevo MG, et al. Hand and upper limb anomalies in Poland syndrome: a new proposal of classification. J Pediatr Orthop, 2012, 32(7): 727-731.
18. Baas M, Burger EB, Sneiders D, et al. Controversies in Poland syndrome: alternative diagnoses in patients with congenital pectoral muscle deficiency. J Hand Surg Am, 2018, 43(2): 186.e1-186.e16.
19. Ozkok S, Erol N, Onal C, et al. Left-sided Poland’s syndrome associated with dextrocardia. North Clin Istanb, 2018, 6(2): 192-195.
20. Torre M, Baban A, Buluggiu A, et al. Dextrocardia in patients with Poland syndrome: phenotypic characterization provides insight into the pathogenesis. J Thorac Cardiovasc Surg, 2010, 139(5): 1177-1182.
21. Corella Aznar EG, Ayerza Casas A, Palanca Arias D, et al. Cardiac dextroposition associated to Poland syndrome. Med Clin (Barc), 2021, 156(3): 151-152.
22. Fraser FC, Teebi AS, Walsh S, et al. Poland sequence with dextrocardia: which comes first?. Am J Med Genet, 1997, 73(2): 194-196.
23. Çetin T, Pay L, Kamber T, et al. Primary right atrial cardiac angiosarcoma in patient with Poland syndrome: case report and review of the literature. Turk Kardiyol Dern Ars, 2023, 51(3): 212-216.
24. 杨培丽, 张云鹤, 钟建卫, 等. Mobius 综合征中文文献计量学分析. 武警医学, 2019, 30(8): 676-679, 683.
25. Telich-Tarriba JE, Navarro-Barquin DF, Verdezoto-Gaibor K, et al. Prevalence of hand malformations in patients with Moebius syndrome and their management. Hand (N Y), 2022, 17(6): 1292-1296.
26. Erol M, Caksen H, Tan O, et al. Report of a girl with Klippel-feil syndrome and Poland anomaly. Genet Couns, 2004, 15(4): 469-472.
27. Wang J, Tang D, Yao Y, et al. Poland syndrome associated with lung cancer: a case report. Asian J Surg, 2023, 46(3): 1459-1460.
28. Huang Y, Pang H, Jin S, et al. Clinical characteristics of Poland’s syndrome associated with breast cancer: two case reports and a literature review. J Cancer Res Ther, 2018, 14(7): 1665-1669.
29. 崔丽园, 张立山, 亓恒涛, 等. 高频超声对 Poland 综合征的诊断价值. 中华超声影像学杂志, 2022, 31(2): 157-160.
30. Baldelli I, Santi P, Dova L, et al. Body image disorders and surgical timing in patients affected by Poland syndrome: data analysis of 58 case studies. Plast Reconstr Surg, 2016, 137(4): 1273-1282.
31. Manzano Surroca M, Parri F, Tarrado X. Poland sequence: retrospective analysis of 66 cases. Ann Plast Surg, 2019, 82(5): 499-511.
32. Fokin AA, Robicsek F. Poland’s syndrome revisited. Ann Thorac Surg, 2002, 74(6): 2218-2225.
33. Delay E, Nachaoui H, Frobert P. Poland’s syndrome. Ann Chir Plast Esthet, 2022, 67(5/6): 358-373.
34. 张昊, 沈卫民, 崔杰, 等. 计算机辅助游离脂肪移植治疗儿童 Poland 综合征胸部软组织畸形的效果. 中华整形外科杂志, 2022, 38(12): 1384-1389.
35. Moon KC, Yeo HD, Yoon ES, et al. Robotic-assisted latissimus dorsi muscle flap for autologous chest reconstruction in poland syndrome. J Plast Reconstr Aesthet Surg, 2020, 73(8): 1506-1513.
36. Ouyang Y, Xu B, Luan J, et al. Chest wall reconstruction in male Poland syndrome patients with endoscopic-assisted latissimus dorsi muscle flap transfer. J Plast Reconstr Aesthet Surg, 2021, 74(11): 3141-3149.
37. 谢江淼, 张文超, 夏泽楠, 等. 横行股薄肌肌皮瓣联合自体脂肪移植修复 Poland 综合征胸壁畸形一例. 中国美容整形外科杂志, 2022, 33(11): 699-700.
38. Delay E, Nachaoui H. Lipomodeling for congenital breast deformities: technique, results and indications. Ann Chir Plast Esthet, 2022, 67(5/6): 319-334.
39. Chavoin JP, Gandolfi S, Leyx P, et al. Breasts and congenital chest-wall deformities: surgical strategy with 3D implants. Ann Chir Plast Esthet, 2022, 67(5/6): 404-413.
40. Sanna S, Brandolini J, Pardolesi A, et al. Materials and techniques in chest wall reconstruction: a review. J Vis Surg, 2017, 3: 95.
41. Young JS, McAllister M, Marshall MB. Three-dimensional technologies in chest wall resection and reconstruction. J Surg Oncol, 2023, 127(2): 336-342.
42. 向朝成, 李德全. 乳头乳晕再造新进展. 中国美容整形外科杂志, 2022, 33(11): 704, 后插 1-后插 3.
43. Cabrera-Gonzalez M, Gutierrez-de la Iglesia D, Fontecha CG, et al. Poland syndrome: a new classification system based on a retrospective analysis of 74 cases. J Hand Surg Eur Vol, 2022, 47(10): 1027-1031.
44. 商浩, 张放, 罗鹏远, 等. 15 例 Poland 综合征并指畸形修复. 中国美容医学, 2021, 30(7): 1-4.
45. 杨光, 田晓菲. 并指分指术中重建指蹼皮瓣的临床进展. 中华整形外科杂志, 2020, 36(12): 1405-1410.
46. 张柯, 王开江, 汪建国, 等. 先天性上尺桡关节融合治疗 2 例. 实用手外科杂志, 2021, 35(1): 135-136.
47. 徐鑫鑫, 袁思, 孙西涛, 等. 改良 Woodward 术式联合锁骨截骨术治疗 Sprengel 畸形 1 例. 中国骨伤, 2023, 36(3): 271-273.
48. 钟文耀, 田文, 李淳, 等. Poland 综合征伴腋蹼畸形的治疗. 中华手外科杂志, 2017, 33(3): 193-195.

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