RESEARCH PROGRESS OF KLIPPEL-FEIL SYNDROME WITH EAR MALFORMATION_Chinese Journal of Reparative and Reconstructive Surgery

Authors：

YANGJinxiu ,  HELeren

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

Corresponding author：

HELeren, Email: heleren@sina.com

Keywords：

Klippel-Feil syndrome; Cervical spine fusion; Congenital dysplasia; Ear malformation; Hearing disorder

DOI：

10.7507/1002-1892.20150307

Video：

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Objective To summarize the research progress in clinic, development, and genetics of the Klippel-Feil syndrome and its primary ear deformity. Methods The related 1iterature at home and abroad concerning the Klippel-Feil syndrome with ear malformation was reviewed, analyzed, and summarized. Results The clinical manifestation and classification of Klippel-Feil syndrome are complicated. As one of the most important accompany malformations, ear deformity mainly leads to hearing impairment and abnormal appearance. However, it is still unclear exactly how the ear deformity forms in Klippel-Feil syndrome, and there is little deep study on the internal connection between the ear deformity and other malformations. The premise for the treatment of Klippel-Feil syndrome includes accurate diagnoses and comprehensive disease assessment, and multidisciplinary collaboration will be the important direction of clinical practice in the future. Conclusion Ear malformation is one of the most important congenital dysplasias in the Klippel-Feil syndrome. Its etiology should be based on research in the development and genetic mechanism. And its diagnosis and treatment should be followed by multidisciplinary collaboration. It is important to pay attention to identifying with ear malformation in other syndromes as well.

Citation： YANGJinxiu, HELeren. RESEARCH PROGRESS OF KLIPPEL-FEIL SYNDROME WITH EAR MALFORMATION. Chinese Journal of Reparative and Reconstructive Surgery, 2015, 29(11): 1434-1440. doi: 10.7507/1002-1892.20150307 Copy

1.	Cooper JC. The Klippel-Feil syndrome. A rare cause of cervico-facial deformity. Br Dent J, 1976, 140(8):264-268.
2.	Brown MW, Templeton AW, Hodges FJ 3rd. The incidence of acquired and congenital fusions in the cervical spine. Am J Roentgenol Radium Ther Nucl Med, 1964, 92:1255-1259.
3.	Thomsen MN, Schneider U, Weber M, et al. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types Ⅰ-Ⅲ. Spine (Phila Pa 1976), 1997, 22(4):396-401.
4.	Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome:clinical features and current understanding of etiology. Clin Orthop Relat Res, 2004, (424):183-190.
5.	Xue X, Shen J, Zhang J, et al. Klippel-Feil syndrome in congenital scoliosis. Spine (Phila Pa 1976), 2014, 39(23):E1353-E1358.
6.	Can A, Dos Santos Rubio EJ, Jasperse B, et al. Spinal neurenteric cyst in association with Klippel-Feil syndrome:Case report and literature review. World Neurosurg, 2015, 84(2):592.e9-14.
7.	庞晓林, 邵燕斌, 杨永涛, 等. Klippel-Feil综合征患者行法洛四联症根治术麻醉一例. 临床麻醉学杂志, 2012, 28(7):720-721.
8.	Nagib MG, Maxwell RE, Chou SN. Klippel-Feil syndrome in children:clinical features and management. Childs Nerv Syst, 1985, 1(5):255-263.
9.	Yildirim N, Arslanoğlu A, Mahiroğullari M, et al. Klippel-Feil syndrome and associated ear anomalies. Am J Otolaryngol, 2008, 29(5):319-325.
10.	Nagib MG, Maxwell RE, Chou SN. Identification and management of high-risk patients with Klippel-Feil syndrome. J Neurosurg, 1984, 61(3):523-530.
11.	Clarke RA, Catalan G, Diwan AD, et al. Heterogeneity in Klippel-Feil syndrome:a new classification. Pediatr Radiol, 1998, 28(12):967-974.
12.	Samartzis DD, Herman J, Lubicky JP, et al. Classification of congenitally fused cervical patterns in Klippel-Feil patients:epidemiology and role in the development of cervical spine-related symptoms. Spine (Phila Pa 1976), 2006, 31(21):E798-E804.
13.	Franceschetti A, Klein D. Cervico-oculo-facial dysmorphia with familial deafness:Klippel-Feil, retraction bulbi, craniofacial asymetry and other congenital anomalies. J Genet Hum, 1954, 3(3):176-183.
14.	McLay K, Maran AG. Deafness and the Klippel-Feil syndrome. J Laryngol Otol, 1969, 83(2):175-184.
15.	Mahiroğullari M, Ozkan H, Yildirim N, et al. Klippel-Feil syndrome and associated congenital abnormalities:evaluation of 23 cases. Acta Orthop Traumatol Turc, 2006, 40(3):234-239.
16.	Windle-Taylor PC, Emery PJ, Phelps PD. Ear deformities associated with the Klippel-Feil syndrome. Ann Otol Rhinol Laryngol, 1981, 90(3 Pt 1):210-216.
17.	McGaughran JM, Kuna P, Das V. Audiological abnormalities in the Klippel-Feil syndrome. Arch Dis Child, 1998, 79(4):352-355.
18.	Gumerlock MK, Spollen LE, Nelson MJ, et al. Cervical neurenteric fistula causing recurrent meningitis in Klippel-Feil sequence:case report and literature review. Pediatr Infect Dis J, 1991, 10(7):532-535.
19.	潘博, 国冬军, 蔡震, 等. 先天性小耳畸形研究现状和进展. 中国美容医学, 2007, 16(7):1010-1012.
20.	Hester SD, Belmonte JM, Gens JS, et al. A multi-cell, multi-scale model of vertebrate segmentation and somite formation. PLoS Comput Biol, 2011, 7(10):e1002155.
21.	Clarke RA, Kearsley JH, Walsh DA. Patterned expression in familial Klippel-Feil syndrome. Teratology, 1996, 53(3):152-157.
22.	邹艺辉. 耳的胚胎发育. 中华耳科学杂志, 2014, 12(4):537-539.
23.	Lumsden A, Sprawson N, Graham A. Segmental origin and migration of neural crest cells in the hindbrain region of the chick embryo. Development, 1991, 113(4):1281-1291.
24.	Da Silva EO. Autosomal recessive Klippel-Feil syndrome. J Med Genet, 1982, 19(2):130-134.
25.	Clarke RA, Singh S, Mckenzie H, et al. Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3). Am J Hum Genet, 1995, 57(6):1364-1370.
26.	Fukushima Y, Ohashi H, Wakui K, et al. De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly. Am J Med Genet, 1995, 57(3):447-449.
27.	Papagrigorakis MJ, Synodinos PN, Daliouris CP, et al. De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia. Eur J Pediatr, 2003, 162(9):594-597.
28.	Goto M, Nishimura G, Nagai T, et al. Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation. Am J Med Genet A, 2006, 140(9):1013-1015.
29.	McGaughran JM, Oates A, Donnai D, et al. Mutations in PAX1 may be associated with Klippel-Feil syndrome. Eur J Hum Genet, 2003, 11(6):468-474.
30.	Tassabehji M, Fang ZM, Hilton EN, et al. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat, 2008, 29(8):1017-1027.
31.	Ye M, Berry-Wynne KM, Asai-Coakwell M, et al. Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet, 2010, 19(2):287-298.
32.	Mohamed JY, Faqeih E, Alsiddiky A, et al. Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet, 2013, 92(1):157-161.
33.	Giampietro PF, Armstrong L, Stoddard A, et al. Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. Am J Med Genet A, 2015, 167A(1):95-102.
34.	Alazami AM, Kentab AY, Faqeih E, et al. A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. J Med Genet, 2015, 52(6):400-404.
35.	Karaca E, Yuregir OO, Bozdogan ST, et al. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A, 2015.[Epub ahead of print].
36.	Joshi VM, Navlekar SK, Kishore GR, et al. CT and MR imaging of the inner ear and brain in children with congenital sensorineural hearing loss. Radiographics, 2012, 32(3):683-698.
37.	Bae Y. Effects of cervical deep muscle strengthening in a neck pain:a patient with klippel-feil syndrome. J Phys Ther Sci, 2014, 26(12):1999-2001.
38.	孙爱华. 耳聋的临床诊断与治疗. 中华临床医师杂志(电子版), 2012, 6(2):277-281.
39.	蒋海越, 潘博, 林琳. 先天性小耳畸形的分型及治疗策略. 中华耳科学杂志, 2013, 11(4):476-480.
40.	Beleza-Meireles A, Clayton-Smith J, Saraiva JM, et al. Oculoauriculo-vertebral spectrum:a review of the literature and genetic update. J Med Genet, 2014, 51(10):635-645.
41.	Rosa RF, Dall'Agnol L, Zen PR, et al. Oculo-auriculo-vertebral spectrum and cardiac malformations. Rev Assoc Med Bras, 2010, 56(1):62-66.
42.	Fraser FC, Sproule JR, Halal F. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet, 1980, 7(3):341-349.
43.	Kochhar A, Fischer SM, Kimberling WJ, et al. Branchio-oto-renal syndrome. Am J Med Genet A, 2007, 143A(14):1671-1678.
44.	Posnick JC. Treacher collins syndrome:perspectives in evaluation and treatment. J Oral Maxillofac Surg, 1997, 55(10):1120-1133.
45.	Wildervanck LS. A case of Klippel-Feil's syndrome with abducens paralysis; retraction of the eyeball and deaf-mutism. Ned Tijdschr Geneeskd, 1952, 96(44):2752-2756.
46.	Taylan Sekerogu H, Ozlem Sımsek-Kıper P, Eda Utıne G, et al. Wildervanck syndrome:an uncommon cause of Duane syndrome. J Fr Ophtalmol, 2014, 37(8):e123-e124.
47.	Lansinger Y, Rayan G. Nager syndrome. J Hand Surg (Am), 2015, 40(4):851-854.

1. Cooper JC. The Klippel-Feil syndrome. A rare cause of cervico-facial deformity. Br Dent J, 1976, 140(8):264-268.
2. Brown MW, Templeton AW, Hodges FJ 3rd. The incidence of acquired and congenital fusions in the cervical spine. Am J Roentgenol Radium Ther Nucl Med, 1964, 92:1255-1259.
3. Thomsen MN, Schneider U, Weber M, et al. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types Ⅰ-Ⅲ. Spine (Phila Pa 1976), 1997, 22(4):396-401.
4. Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome:clinical features and current understanding of etiology. Clin Orthop Relat Res, 2004, (424):183-190.
5. Xue X, Shen J, Zhang J, et al. Klippel-Feil syndrome in congenital scoliosis. Spine (Phila Pa 1976), 2014, 39(23):E1353-E1358.
6. Can A, Dos Santos Rubio EJ, Jasperse B, et al. Spinal neurenteric cyst in association with Klippel-Feil syndrome:Case report and literature review. World Neurosurg, 2015, 84(2):592.e9-14.
7. 庞晓林, 邵燕斌, 杨永涛, 等. Klippel-Feil综合征患者行法洛四联症根治术麻醉一例. 临床麻醉学杂志, 2012, 28(7):720-721.
8. Nagib MG, Maxwell RE, Chou SN. Klippel-Feil syndrome in children:clinical features and management. Childs Nerv Syst, 1985, 1(5):255-263.
9. Yildirim N, Arslanoğlu A, Mahiroğullari M, et al. Klippel-Feil syndrome and associated ear anomalies. Am J Otolaryngol, 2008, 29(5):319-325.
10. Nagib MG, Maxwell RE, Chou SN. Identification and management of high-risk patients with Klippel-Feil syndrome. J Neurosurg, 1984, 61(3):523-530.
11. Clarke RA, Catalan G, Diwan AD, et al. Heterogeneity in Klippel-Feil syndrome:a new classification. Pediatr Radiol, 1998, 28(12):967-974.
12. Samartzis DD, Herman J, Lubicky JP, et al. Classification of congenitally fused cervical patterns in Klippel-Feil patients:epidemiology and role in the development of cervical spine-related symptoms. Spine (Phila Pa 1976), 2006, 31(21):E798-E804.
13. Franceschetti A, Klein D. Cervico-oculo-facial dysmorphia with familial deafness:Klippel-Feil, retraction bulbi, craniofacial asymetry and other congenital anomalies. J Genet Hum, 1954, 3(3):176-183.
14. McLay K, Maran AG. Deafness and the Klippel-Feil syndrome. J Laryngol Otol, 1969, 83(2):175-184.
15. Mahiroğullari M, Ozkan H, Yildirim N, et al. Klippel-Feil syndrome and associated congenital abnormalities:evaluation of 23 cases. Acta Orthop Traumatol Turc, 2006, 40(3):234-239.
16. Windle-Taylor PC, Emery PJ, Phelps PD. Ear deformities associated with the Klippel-Feil syndrome. Ann Otol Rhinol Laryngol, 1981, 90(3 Pt 1):210-216.
17. McGaughran JM, Kuna P, Das V. Audiological abnormalities in the Klippel-Feil syndrome. Arch Dis Child, 1998, 79(4):352-355.
18. Gumerlock MK, Spollen LE, Nelson MJ, et al. Cervical neurenteric fistula causing recurrent meningitis in Klippel-Feil sequence:case report and literature review. Pediatr Infect Dis J, 1991, 10(7):532-535.
19. 潘博, 国冬军, 蔡震, 等. 先天性小耳畸形研究现状和进展. 中国美容医学, 2007, 16(7):1010-1012.
20. Hester SD, Belmonte JM, Gens JS, et al. A multi-cell, multi-scale model of vertebrate segmentation and somite formation. PLoS Comput Biol, 2011, 7(10):e1002155.
21. Clarke RA, Kearsley JH, Walsh DA. Patterned expression in familial Klippel-Feil syndrome. Teratology, 1996, 53(3):152-157.
22. 邹艺辉. 耳的胚胎发育. 中华耳科学杂志, 2014, 12(4):537-539.
23. Lumsden A, Sprawson N, Graham A. Segmental origin and migration of neural crest cells in the hindbrain region of the chick embryo. Development, 1991, 113(4):1281-1291.
24. Da Silva EO. Autosomal recessive Klippel-Feil syndrome. J Med Genet, 1982, 19(2):130-134.
25. Clarke RA, Singh S, Mckenzie H, et al. Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3). Am J Hum Genet, 1995, 57(6):1364-1370.
26. Fukushima Y, Ohashi H, Wakui K, et al. De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly. Am J Med Genet, 1995, 57(3):447-449.
27. Papagrigorakis MJ, Synodinos PN, Daliouris CP, et al. De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia. Eur J Pediatr, 2003, 162(9):594-597.
28. Goto M, Nishimura G, Nagai T, et al. Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation. Am J Med Genet A, 2006, 140(9):1013-1015.
29. McGaughran JM, Oates A, Donnai D, et al. Mutations in PAX1 may be associated with Klippel-Feil syndrome. Eur J Hum Genet, 2003, 11(6):468-474.
30. Tassabehji M, Fang ZM, Hilton EN, et al. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat, 2008, 29(8):1017-1027.
31. Ye M, Berry-Wynne KM, Asai-Coakwell M, et al. Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet, 2010, 19(2):287-298.
32. Mohamed JY, Faqeih E, Alsiddiky A, et al. Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet, 2013, 92(1):157-161.
33. Giampietro PF, Armstrong L, Stoddard A, et al. Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. Am J Med Genet A, 2015, 167A(1):95-102.
34. Alazami AM, Kentab AY, Faqeih E, et al. A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. J Med Genet, 2015, 52(6):400-404.
35. Karaca E, Yuregir OO, Bozdogan ST, et al. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A, 2015.[Epub ahead of print].
36. Joshi VM, Navlekar SK, Kishore GR, et al. CT and MR imaging of the inner ear and brain in children with congenital sensorineural hearing loss. Radiographics, 2012, 32(3):683-698.
37. Bae Y. Effects of cervical deep muscle strengthening in a neck pain:a patient with klippel-feil syndrome. J Phys Ther Sci, 2014, 26(12):1999-2001.
38. 孙爱华. 耳聋的临床诊断与治疗. 中华临床医师杂志(电子版), 2012, 6(2):277-281.
39. 蒋海越, 潘博, 林琳. 先天性小耳畸形的分型及治疗策略. 中华耳科学杂志, 2013, 11(4):476-480.
40. Beleza-Meireles A, Clayton-Smith J, Saraiva JM, et al. Oculoauriculo-vertebral spectrum:a review of the literature and genetic update. J Med Genet, 2014, 51(10):635-645.
41. Rosa RF, Dall'Agnol L, Zen PR, et al. Oculo-auriculo-vertebral spectrum and cardiac malformations. Rev Assoc Med Bras, 2010, 56(1):62-66.
42. Fraser FC, Sproule JR, Halal F. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet, 1980, 7(3):341-349.
43. Kochhar A, Fischer SM, Kimberling WJ, et al. Branchio-oto-renal syndrome. Am J Med Genet A, 2007, 143A(14):1671-1678.
44. Posnick JC. Treacher collins syndrome:perspectives in evaluation and treatment. J Oral Maxillofac Surg, 1997, 55(10):1120-1133.
45. Wildervanck LS. A case of Klippel-Feil's syndrome with abducens paralysis; retraction of the eyeball and deaf-mutism. Ned Tijdschr Geneeskd, 1952, 96(44):2752-2756.
46. Taylan Sekerogu H, Ozlem Sımsek-Kıper P, Eda Utıne G, et al. Wildervanck syndrome:an uncommon cause of Duane syndrome. J Fr Ophtalmol, 2014, 37(8):e123-e124.
47. Lansinger Y, Rayan G. Nager syndrome. J Hand Surg (Am), 2015, 40(4):851-854.

Chinese Journal of Reparative and Reconstructive Surgery

RESEARCH PROGRESS OF KLIPPEL-FEIL SYNDROME WITH EAR MALFORMATION

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