Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment

详细信息    查看全文

• 作者：Ali Al Kaissi (1) (2)
  Farid Ben Chehida (3)
  Rudolf Ganger (2)
  Klaus Klaushofer (1)
  Franz Grill (2)
  
  1. Ludwig Boltzmann Institute of Osteology ; The Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling ; First Medical Department ; Hanusch Hospital ; Heinrich Collin Str. 30 A ; 1140 ; Vienna ; Austria
  2. Paediatric Department ; Orthopaedic Hospital of Speising ; Speisinger Str. 109 ; 1130 ; Vienna ; Austria
  3. Institute of Radiology-Ibn Zohr ; Tunis ; Tunisia
  
• 关键词：Goldenhar syndrome ; Diverse spine deformities ; CT scan
• 刊名：European Spine Journal
• 出版年：2015
• 出版时间：March 2015
• 年：2015
• 卷：24
• 期：3
• 页码：594-599
• 全文大小：2,001 KB
• 参考文献：1. Goldenhar, M (1952) Associations malformatives de l鈥檕eil et de l鈥檕reille en particulaire, le syndrome dermoide epibulbaire-appendices auriculares-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J Genet Hum 1: pp. 243
  2. Gorlin, RJ Branchial arch and oro-acral disorders. In: Gorlin, RJ, Cohen, MM, Levin, LS eds. (2001) Syndromes of the head and neck. Oxford University Press, New York, pp. 790-797
  3. Kay, ED, Kay, CN (1989) Dysmorphogenesis of the mandible, zygoma, and middle ear ossicles in hemifacial microsomia and mandibulofacial dysostosis. Am J Med Genet 32: pp. 27-31 CrossRef
  4. Kosaki, R, Fujimaru, R, Samejima, H (2007) Wide phenotypic variations within a family with SALL1 mutations: isolated external ear abnormalities to Goldenhar syndrome. Am J Med Genet 143A: pp. 1087-1090 CrossRef
  5. Tasse, C, Majewski, F, B枚hringer, S, Fischer, S, L眉decke, HJ, Gillessen-Kaesbach, G, Wieczorek, D (2007) A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clin Dysmorphol 16: pp. 1-7 CrossRef
  6. Anderson, PJ, David, DJ (2005) Spinal anomalies in Goldenhar syndrome. Cleft Palate Craniofac J 42: pp. 477-480 CrossRef
  7. Gosain, AK, McCarthy, JG, Pinto, RS (1994) Cervicovertebral anomalies and basilar impression in Goldenhar syndrome. Plast Reconstr Surg 93: pp. 498-506 CrossRef
  8. Healey, D, Letts, M, Jarvis, JG (2002) Cervical spine instability in children with Goldenhar鈥檚 syndrome. Can J Surg 45: pp. 341-344
  9. Tsou, PM, Yau, A, Hodgson, AR (1980) Embryogenesis and prenatal development of congenital vertebral anomalies and their classification. Clin Orthop Relat Res 152: pp. 211-231
  10. Morin, B, Poitras, B, Duhaime, M, Rivard, CH, Marton, D (1985) Congenital kyphosis by segmentation defect: etiologic and pathogenic studies. J Pediatr Orthop 5: pp. 309-314 CrossRef
  11. Yun, HC, Grason, D, True, D (2005) Vertebral anomalies associated with Goldenhar syndrome. J Clin Rheumatol 11: pp. 283-284 CrossRef
  12. Gibson, JN, Sillence, DO, Taylor, TK (1996) Abnormalities of the spine in Goldenhar鈥檚 syndrome. J Pediatr Orthop 16: pp. 344-349 CrossRef
  13. Tsirikos, AI, McMaster, MJ (2006) Goldenhar-associated conditions (hemifacial microsomia) and congenital deformities of the spine. Spine 31: pp. E400-E407 CrossRef
  14. McKay, SD, Al-Omari, A, Tomlinson, LA, Dormans, JP (2012) Review of cervical spine anomalies in genetic syndromes. Spine 37: pp. E269-E277 CrossRef
  15. Harris, J, Kallen, B, Robert, E (1996) The epidemiology of anotia and microtia. J Med Genet 33: pp. 809-813 CrossRef
  16. Albrecht, B, Liebers, M, Kohlhase, J (2004) Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. Am J Med Genet 125A: pp. 102-104 CrossRef
  17. Priya, Malhotra AK (2004) Townes鈥揃rocks syndrome. Indian Pediatr 41: pp. 743
  18. Reardon, W, Casserly, LF, Birkenhager, R, Kohlhase, J (2007) Kidney failure in Townes鈥揃rocks syndrome: an under recognized phenomenon?. Am J Med Genet 143A: pp. 2588-2591 CrossRef
  19. Beck, AE, Hudgins, L, Hoyme, HE (2005) Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?. Am J Med Genet A 134: pp. 359-362 CrossRef
  20. Richieri-Costa, A, Ribeiro, LA (2006) Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum?. Cleft Palate Craniofac J 43: pp. 429-434 CrossRef
  21. Keegan, CE, Mulliken, JB, Wu, BL, Korf, BR (2001) Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a 鈥渉ot spot鈥?for mutation in the SALL1 gene. Genet Med 3: pp. 310-313 CrossRef
  22. Rollnick, BR, Kaye, CI (1985) Hemifacial microsomia and the branchio-oto-renal syndrome. J Craniofac Gen Dev Bio 5: pp. 287-295
  23. Goodin, K, Prucka, S, Woolley, AL (2009) Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1. Am J Med Genet 149A: pp. 535-538 CrossRef
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Surgical Orthopedics
  Neurosurgery
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-0932

文摘

Purpose Goldenhar syndrome consists of a combination of unilateral auricular appendages, auricular fistulas, and ocular epibulbar dermoids combined with a unilateral underdevelopment of the craniofacial structures and vertebral abnormalities. We aimed to elicit the underlying spine pathology in a group of patients via tomographic assessment. Materials and Methods Hemifacial microsomia, cranial asymmetry, multiple ear tags, skin tags around the mouth and microtia were the most prominent facial features encountered in six patients with Goldenhar syndrome. Torticollis and cervico-thoracic scoliosis were the major deformities encountered in all patients. Thoraco-lumbar scoliosis and kyphoscoliosis were of lesser occurrence. Tomographic studies have been applied to all patients to delineate the underlying pathology. Results Diverse spectrum of distinctive spine anomalies has been identified. Malsegmentation of the skull base associated with diffuse fusion with the upper cervical vertebrae was the most common spine pathology. Bilateral failure of segmentation, unilateral unsegmented bar and failure of vertebral formation were of lesser occurrence. Strikingly, we observed that the side of the hemifacial microsomia is strongly correlated with that of the craniocervical and the cervical vertebral abnormalities. Conclusion The importance of this paper is threefold; first, little information is available in the literature regarding the magnitude and the diversity of spine pathology in patients with Goldenhar syndrome. Second, is to alert spine specialists that conventional radiographic assessment of the craniocervical area is an insufficient modality to assess children with syndromic associations. Third, a rotation and flexion deformity of the neck associated with facial asymmetry and/or plagiocephaly should be considered as a syndromic entity rather than a simple physiological deformation.