遗传综合征对唇腭裂修复算法的影响——一项回顾性研究
The Influence of Genetic Syndromes on the Algorithm of Cleft Lip and Palate Repair - A Retrospective Study.
作者信息
Sándor-Bajusz Kinga Amália, Maros Teodor Barna, Olasz Lajos, Sándor George Kálmán, Hadzsiev Kinga, Vástyán Attila Mihály
机构信息
Department of Paediatrics, University of Pécs, Pécs, Hungary.
Department of Otorhinolaryngology, Ferenc Flór County Hospital, Kistarcsa, Hungary.
出版信息
Ann Maxillofac Surg. 2021 Jul-Dec;11(2):270-273. doi: 10.4103/ams.ams_77_21. Epub 2021 Nov 29.
INTRODUCTION
This study aimed to determine if the treatment algorithm used for nonsyndromic cleft patients required alteration to manage syndromic cleft lip and/or palate patients.
METHODS
The records of patients managed by the Pécs Cleft Team between January 1999 and December 2015 were analyzed retrospectively. The sources of the data included clinical and genetic records.
RESULTS
A total of 607 patients were managed by the cleft team during the study. Sixteen patients (2.6%) were noted to be afflicted with a particular identifiable syndrome. Seven different genetic syndromes and one sequence were present in the study. The Pierre Robin sequence occurred most often, comprising 50% of the cohort. The treatment algorithm used in managing nonsyndromic clefts required modification in 13 of the 16 syndromic patients.
DISCUSSION
The presence of a genetic syndrome may notably affect the treatment algorithm in children born with cleft lip and/or palate. The surgical treatment of certain associated anomalies has by necessity, priority over the timing of the reconstruction of the cleft lip and/or cleft palate in syndromic patients.
引言
本研究旨在确定用于非综合征性腭裂患者的治疗方案是否需要调整，以管理综合征性唇裂和/或腭裂患者。
方法
回顾性分析1999年1月至2015年12月期间由佩奇腭裂治疗团队管理的患者记录。数据来源包括临床和遗传记录。
结果
在研究期间，腭裂治疗团队共管理了607例患者。其中16例患者（2.6%）被诊断患有特定的可识别综合征。研究中出现了7种不同的遗传综合征和1种序列。皮埃尔·罗宾序列最为常见，占该队列的50%。在16例综合征性患者中，有13例患者需要对用于管理非综合征性腭裂的治疗方案进行调整。
讨论
遗传综合征的存在可能会显著影响唇裂和/或腭裂患儿的治疗方案。在综合征性患者中，某些相关异常的手术治疗必然优先于唇裂和/或腭裂修复的时机。
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