Korean J Anesthesiol.  2009 Nov;57(5):637-640. 10.4097/kjae.2009.57.5.637.

Airway management in a patient with Treacher Collins syndrome: A case report

Affiliations
  • 1Department of Anesthesiology and Pain Medicine, Eulji University Hospital, Eulji University School of Medicine, Daejeon, Korea. kyoungjudream@yahoo.co.kr
  • 2Department of Anesthesiology and Pain Medicine,Eulji General Hospital, Eulji University School of Medicine, Seoul, Korea.

Abstract

Treacher Collins Syndrome (TCS) is an autosomal dominant genetic disorder which is resulted from the mutation that affect the Treacher Collins-Franceschetti syndrome 1 (TCOF1) gene on chromosome 5. The features of patients affected by this syndrome are characterized by depression of the malar bones, an antimongoloid slant of the palpebral fissures, coloboma of the lower lids, mandibular hypoplasia with retrognathia and deformities of the ear structures. The airway obstruction is frequently caused by mandibular hypoplasia. This may necessitate the placement of a tracheostomy for airway patency after the birth. We experienced a tracheostomy for an infant with respiratory difficulty associated airway obstruction.

Keyword

Airway obstruction; Tracheostomy; Treacher Collins syndrome

MeSH Terms

Airway Management
Airway Obstruction
Chromosomes, Human, Pair 5
Coloboma
Congenital Abnormalities
Depression
Ear
Humans
Infant
Mandibulofacial Dysostosis
Parturition
Retrognathia
Tracheostomy
Zygoma
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