본문 바로가기
KERD
논문KCI 등재

Treacher Collins 증후군 환아에서 급성 기도 폐색

Acute airway obstruction in an infant with treacher collins syndrome: Report of a case

0

조회

0

다운로드

2

인용

0

참고문헌

주제분류치의학

초록

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.

참고문헌 (28)

  1. "Positional cloning of a gene involved in the pathogenesis of Treacher Collins Syndrome Collaborative Group", 12, pp.130~136 (1996)
  2. "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", 6, pp.727~737 (1997)
  3. "Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene", 7, pp.223~234 (1997)
  4. "Treacher Collins syndrome gene product, treacle is targeted to the nucleolus by signals in its G-terminus", 7, pp.1947~1952 (1998)
  5. "Long-term outcome study of bilateral mandibular distraction A comparison of Treacher Collins and Nager syndromes to other types of micrognathia", 109(6), pp.1819~1825 (2002)
  6. "Cranio-orbito-zygomatic measurements from standard CT scans in unoperated Treacher Collins syndrome patients: Comparison with normal controls", 32, pp.20~24 (1995)
  7. "Craniofacial morphology in Treacher Collins syndrome", 28, pp.226~231 (1991)
  8. "Variations in the correction of Treacher Collins syndrome", 99, pp.647~657 (1997)
  9. "The Treacher Collins syndrome: A clinical, radiological and genetic linkage study on two pedigrees", 121, pp.509~514 (1995)
  10. "Anaesthesia for Treacher Collins syndrome using a laryngeal mask airway", 38, pp.1043~1045 (1991)
  11. "Treacher Collins syndrome: Evaluation and treatment Craniofacial and Maxillofacial Surgery in Children and Young Adults", 1, pp.391~418 (2000), Saunders
  12. "트리쳐 콜린스 증후군의 치료", pp.750~761
  13. "Treacher Collins syndrome with acute airway obstruction", 54, pp.41~43 (2000)
  14. "Treacher Collins syndrome:Phenotypic variability in a family including an infant with arhinia and uveal colobomoss", 61, pp.71~74 (1996)
  15. "Innovative surgical approach for the Pirre Robin anomalad:Subperiosteal release of the floor of the mouth musculature", 83, pp.960~966 (1989)
  16. "Treatment of airway obstruction in Pirre Robin syndrome:A modified lip-tongue adhesion", 107, pp.419~421 (1981)
  17. "Mandibulofacial dysostosis Treacher Collins syndrome. Reconstructive plastic surgery", 4, pp.3101~3123 (1999), Saunders
  18. "Case with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bone", 20, pp.190~ (1990)
  19. "Mann I,Kliner TP:Deficiency of the malar bone with defect of the lower eyelids", 27, pp.13~ (1943)
  20. "Mandibulofacial dysostosis", 37, pp.71~ (1952)
  21. "The first arch syndrome", 33, pp.477~ (1958)
  22. "The skeletal anatomy of mandibulofacial dysostosis"
  23. "Micrognathia and glossoptosis with airway obstruction.Reconstructive plastic surgery", 4, pp.3123~3134 (1999), Saunders
  24. "Growth of the mandible in infants with micrognathia", 88, pp.29~ (1954)
  25. "Glossopexy for upper airway obstruction in Robin sequence", 29, pp.232~238 (1992)
  26. "Parsons RW,Smith DJ:A modified tongue-lip adhesion for Pierre-Robin anomalad", 17, pp.144~147 (1980)
  27. "The treatment of micrognathia associated with obstruction by a plastic procedure", 1, pp.300~308 (1946)
  28. "Surgical treatment of Robin sequence and sleep apnea syndrome:case report and review of literature", 51, pp.1274~1277 (1993)

관련 논문AI추천

이 간행물의 다른 논문 (10건)