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特雷彻·柯林斯综合征患者的气道管理:一例报告。

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

作者信息

Kim Young Ju, Kang Hyo Seok, Park Dong Ho, Kim Han Young, Jung Taehyeng

机构信息

Department of Anesthesiology and Pain Medicine, Eulji University Hospital, Eulji University School of Medicine, Daejeon, Korea.

出版信息

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

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.

摘要

特雷彻·柯林斯综合征(TCS)是一种常染色体显性遗传病,由影响5号染色体上特雷彻·柯林斯-弗朗切斯科蒂综合征1(TCOF1)基因的突变引起。受该综合征影响的患者特征表现为颧骨凹陷、睑裂呈反蒙古人种倾斜、下眼睑缺损、下颌发育不全伴下颌后缩以及耳部结构畸形。气道阻塞常由下颌发育不全引起。这可能需要在婴儿出生后进行气管造口术以保持气道通畅。我们经历了一例为患有与气道阻塞相关的呼吸困难的婴儿进行气管造口术的病例。

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