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

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.