Otolaryngologic Manifestations of Trisomy 13 and Trisomy 18 in Pediatric Patients.
Otolaryngologic Manifestations of Trisomy 13 and Trisomy 18 in Pediatric Patients.
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儿科患者 13 三体和 18 三体的耳鼻喉表现。
DOI：
10.1002/lary.30350
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发表时间：
2023
期刊：
影响因子：
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通讯作者：
Shearer,AEliot
中科院分区：
文献类型：
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作者：
Benson,Jalen;Stewart,Candace;Kenna,MargaretA;Shearer,AEliot
目的在过去的二十年中，13三体和18三体患者的生存率显著提高。我们试图全面描述我们机构这些患者的耳鼻喉科临床特征和所需的手术。方法对1997年2月至2021年3月期间在我院耳鼻喉科提供住院或门诊服务的13和18三体诊断患者进行算法识别。结果47例患者中，18例诊断为13三体，29例诊断为18三体。13三体患者中有44%（8/18）存在完全三体，18三体患者中有55%（16/29）存在完全三体。81%的患者在研究时还活着。约94%（44/47）的患者需要咨询耳鼻喉科以外的其他专科。总体而言，该队列中最常见的诊断是胃食管反流病（47%）、吞咽困难（40%）、中耳炎（38%）和阻塞性睡眠呼吸暂停（34%）。近四分之三（74%）的患者需要耳鼻喉科手术。最常见的手术是扁桃体切除术和/或腺样体切除术。18三体患者更容易出现外耳道狭窄和阻塞性睡眠呼吸暂停，而13三体患者更容易出现唇裂和腭裂。结论诊断为13或18三体的患者往往需要多学科管理，所需护理的范围跨越耳鼻喉科的广度。证据水平[j] .喉镜，33 (3):1501 - 1506,2023
ObjectiveThe survival rate of patients with trisomy 13 and trisomy 18 has increased dramatically over the past two decades. We sought to comprehensively describe the otolaryngologic clinical characteristics and procedures required for these patients at our institution.MethodsWe performed algorithmic identification of patients with a diagnosis of trisomy 13 and trisomy 18 for whom the otolaryngology service provided inpatient or outpatient care at our institution between the dates of February 1997 and March 2021.ResultsOf the 47 patients studied, 18 patients had a diagnosis of trisomy 13, and 29 had a diagnosis of trisomy 18. Complete trisomy was present in 44% (8/18) of trisomy 13 patients and 55% (16/29) of trisomy 18 patients. 81% of patients were living at the time of the study. About 94% (44/47) of patients required consultation with another specialty in addition to Otolaryngology. Overall, the most common diagnoses among this cohort were gastroesophageal reflux disease (47%), dysphagia (40%), otitis media (38%), and obstructive sleep apnea (34%). Nearly three‐quarters (74%) of patients studied required an otolaryngologic procedure. The most common surgical procedure was tonsillectomy and/or adenoidectomy. Patients with trisomy 18 were significantly more likely to have external auditory canal stenosis and obstructive sleep apnea whereas patients with trisomy 13 were more likely to have cleft lip and palate.ConclusionsPatients with a diagnosis of trisomy 13 or 18 often require multidisciplinary management and the range of required care spans the breadth of otolaryngology.Level of Evidence4Laryngoscope, 133:1501–1506, 2023