Journal of the Korean Association of Oral and Maxillofacial Surgeons

The Korean Association of Oral and Maxillofacial Surgeons (대한구강악안면외과학회)
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ACUTE AIRWAY OBSTRUCTION IN AN INFANT WITH TREACHER COLLINS SYNDROME: REPORT OF A CASE

Treacher Collins 증후군 환아에서 급성 기도 폐색

  • Ryu, Sun-Youl (Department of Oral and Maxillofacial Surgery, College of Dentistry, Dental Science Research Institute, Chonnam National University) ;
  • Seo, Il-Young (Department of Oral and Maxillofacial Surgery, College of Dentistry, Dental Science Research Institute, Chonnam National University) ;
  • Hwang, Ung (Department of Oral and Maxillofacial Surgery, College of Dentistry, Dental Science Research Institute, Chonnam National University) ;
  • Kim, Sun-Kook (Department of Oral and Maxillofacial Surgery, College of Dentistry, Dental Science Research Institute, Chonnam National University)
  • 유선열 (전남대학교 치과대학 구강악안면외과학교실, 전남대학교 치의학연구소) ;
  • 서일영 (전남대학교 치과대학 구강악안면외과학교실, 전남대학교 치의학연구소) ;
  • 황웅 (전남대학교 치과대학 구강악안면외과학교실, 전남대학교 치의학연구소) ;
  • 김선국 (전남대학교 치과대학 구강악안면외과학교실, 전남대학교 치의학연구소)
  • Published : 2004.10.30
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Abstract

Treacher Collins syndrome is inherited as an autosomal dominant trait with variable penetrance. It shows a marked variability even in the same family. This syndrome is developmental defect affecting the branchial arches. It is not usually associated with acute respiratory distress, but has symptoms of microtia, hypoplastic zygomatic bones, hypoplastic mandibular rami, and bilateral coloboma. It usually requires an emergency operation immediately after the birth. We experienced an infant with Treacher Collins syndrome who showed retrognathia, glossoptosis, microtia, and cleft palate. Intermittent cyanosis, depression of the chest, respiratory difficulty associated with airway obstruction, and swallowing difficulty were also observed. To relieve severe upper airway obstruction caused by retrognathia and glossoptosis, we simultaneously performed tongue-lip adhesion and subperiosteal release of the floor of the mouth. The respiratory and swallowing difficulties were relieved and the tongue repositioned anteriorly. We report the present case with a review of the literature.

안검열의 외하방 편위, 관골 형성부전, 하악골 형성부전, 하악 후퇴증, 소이증, 설하수, 구개열 등의 소견으로 간헐적인 청색증, 흉곽 함몰, 급성 기도 폐색에 의한 호흡곤란과 연하곤란 등의 임상 소견을 나타낸 Treacher Collins 증후군을 가진 환아에서 출생직후에 구강저골막하박리술과 설구순접합술을 이용한 외과적 치료를 시행한 결과 급성 기도 폐색에 의한 호흡곤란과 수유장애의 해소 뿐만 아니라 혀의 전방 재위치 등 만족할 만한 결과를 얻을 수 있었다. 향후 성장이 완료될 때까지 주기적 경과 관찰을 시행할 예정이며, 성장과정 중에 발생할 두개안면기형에 대해서는 정신사회학적 측면을 고려하여 가능한 한 조기에 교정해주고, 어느 일부분에 국한된 수술보다는 안면윤곽을 고려하여 복합적인 수술을 시행해야 할 것으로 사료된다.

Keywords

References

  1. Anonymous: Positional cloning of a gene involved in the pathogenesis of Treacher Collins Syndrome Collaborative Group. Nat Genet 1996;12:130-136 https://doi.org/10.1038/ng0296-130
  2. Dixon J, Hovanes K, Shiang R, et al: Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and irs \human homologue, TCOF1. Hum Mol Genet 1997;6:727-737 https://doi.org/10.1093/hmg/6.5.727
  3. Dixon J, Edward S, Anserson I, et al: Identification of the complete \coding sequence and genomic organization of the Treacher Collins syndrome gene. Genome Res 1997;7:223-234 https://doi.org/10.1101/gr.7.3.223
  4. Winokur ST, Shiang R: Treacher Collins syndrome (TCOF1) gene product, treacle is targeted to the nucleolus by signals in its G-terminus. Hum Mol Genet 1998;7:1947-1952 https://doi.org/10.1093/hmg/7.12.1947
  5. Stelnicki EJ, Lin W-Y, Lee C, Grayson BH, McCarthy JG: Long-term outcome study of bilateral mandibular distraction: A comparison of Treacher Collins and Nager syndromes to other types of micrognathia. Plast Reconstr Surg 2002;109(6):1819-1825 https://doi.org/10.1097/00006534-200205000-00006
  6. Posnick JC, Al-Qattan MM, Moffat SM, Armstrong D: Cranio-orbitozygomatic measurements from standard CT scans in unoperated Treacher Collins syndrome patients: Comparison with normal controls. Cleft Palate-Craniofac 1995;32:20-24 https://doi.org/10.1597/1545-1569(1995)032<0020:CMFSCS>2.3.CO;2
  7. Arvystas M, Shprintzen RJ: Craniofacial morphology in Treacher Collins syndrome. Cleft Palate-Craniofac J 1991;28:226-231 https://doi.org/10.1597/1545-1569(1991)028<0226:CMITCS>2.3.CO;2
  8. Freihofer HP: Variations in the correction of Treacher Collins syndrome. Plast Reconstr Surg 1997;99:647-657 https://doi.org/10.1097/00006534-199703000-00006
  9. Marres HAM, Cremers CWRJ, Dixon MJ, Huygen LM, Joosten FBM: The Treacher Collins syndrome: A clinical, radiological and genetic linkage study on two pedigrees. Arch Otolaryngol Head Neck Surg 1995;121:509-514 https://doi.org/10.1001/archotol.1995.01890050009002
  10. Ebata T, Nishiki S, Masuda A, Amaha K: Anaesthesia for Treacher Collins syndrome using a laryngeal mask airway. Can J Anaesth 1991;38:1043-1045 https://doi.org/10.1007/BF03008624
  11. Posnick JC: Treacher Collins syndrome: Evaluation and treatment. Posnick JC: Craniofacial and Maxillofacial Surgery in Children and Young Adults. 2nd ed. Vol 1. Philadelphia, Saunders, 2000;391-418
  12. 서일경, 선 욱, 김진환, 백록민, 백세민: 트리쳐 콜린스 증후군의 치료. 대한성형외과학회지 1994;21(4):750-761
  13. Shah FA, Ramakrishna S, Ingle V, et al: Treacher Collins syndrome with acute airway obstruction. Int J Pediatr Otorhinolaryngol 2000;54:41-43 https://doi.org/10.1016/S0165-5876(00)00336-0
  14. Hansen M, Leuarelli MJ, Whiteman DAH, Mulliken JB: Treacher Collins syndrome: Phenotypic variability in a family including an infant with arhinia and uveal colobomoss. Am J Med Genet 1996;61:71-74 https://doi.org/10.1002/(SICI)1096-8628(19960102)61:1<71::AID-AJMG14>3.0.CO;2-T
  15. Delorme R-P, Larocque Y, Caouette-Laberge L: Innovative surgical approach for the Pirre Robin anomalad: Subperiosteal release of the floor of the mouth musculature. Plast Reconst Surg 1989;83:960-966 https://doi.org/10.1097/00006534-198906000-00004
  16. Smith JD: Treatment of airway obstruction in Pirre Robin syndrome: A modified lip-tongue adhesion. Arch Otolaryngol 1981;107:419-421 https://doi.org/10.1001/archotol.1981.00790430021005
  17. Munro IR, Kay PB: Mandibulofacial dysostosis (Treacher Collins syndrome). In Converse JM (ed). Reconstructive plastic surgery. 3rd ed. Vol 4, Philadelphia, Saunders, 1999;3101-3123
  18. Treacher-Colins E: Case with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bone. Trans Ophthal Soc 1990;20:190
  19. Mann I, Kliner TP: Deficiency of the malar bone with defect of the lower eyelids. Br J Ophthalmol 1943;27:13
  20. Briggs AM: Mandibulofacial dysostosis. Br J Ophthalmol 1952;37:71
  21. McKenzie J: The first arch syndrome. Acta Dis Child 1958;33:477
  22. Marsh JL, Celin SE, Vannier MW, Gado M: The skeletal anatomy of mandibulofacial dysostosis (Treacher Collins syndrome). Plast Reconst Surg 1986;78:460
  23. Randall P: The Robin sequence: Micrognathia and glossoptosis with airway obstruction. In Converse JM (ed). Reconstructive plastic surgery, 3rd ed. Vol 4, Philadelphia, Saunders, 1999;3123-3134
  24. Pruzansky S, Richmond JB: Growth of the mandible in infants with micrognathia. Am J Dis Child 1954;88:29
  25. Argamaso AE: Glossopexy for upper airway obstruction in Robin sequence. Cleft Palate Craniofac J 1992;29:232-238 https://doi.org/10.1597/1545-1569(1992)029<0232:GFUAOI>2.3.CO;2
  26. Parsons RW, Smith DJ : A modified tongue-lip adhesion for Pierre-Robin anomalad. Cleft Palate J 1980;17:144-147
  27. Douglas B: The treatment of micrognathia associated with obstruction by a plastic procedure. Plast Reconstr Surg 1946;1:300-308 https://doi.org/10.1097/00006534-194611000-00007
  28. Frohberg U, Lange R-T: Surgical treatment of Robin sequence and sleep apnea syndrome: case report and review of literature. J Oral Maxillofac Surg 1993;51:1274-1277 https://doi.org/10.1016/S0278-2391(10)80302-7