Treacher Collins 증후군 환아에서 급성 기도 폐색

• 영문명: ACUTE AIRWAY OBSTRUCTION IN AN INFANT WITH TREACHER COLLINS SYNDROME: REPORT OF A CASE
• 발행기관: 대한구강악안면외과학회
• 저자명: 유선열(Sun-Youl Ryu) 서일영(Il-Young Seo) 황웅(Ung Hwang) 김선국(Sun-Kook Kim)
• 간행물 정보: 『대한구강악안면외과학회지』대한구강악안면외과학회지 제30권 제5호, 422~427쪽, 전체 6쪽
• 주제분류: 의약학 > 내과학
• 파일형태: PDF
• 발행일자: 2004.10.30

영문 초록

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.

키워드

Treacher Collins syndrome Airway obstruction Surgical treatment