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Abstract：
The 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.
We 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.
Of 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.
Patients with a diagnosis of trisomy 13 or 18 often require multidisciplinary management and the range of required care spans the breadth of otolaryngology.
4 Laryngoscope, 133:1501-1506, 2023.
We 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.
Of 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.
Patients with a diagnosis of trisomy 13 or 18 often require multidisciplinary management and the range of required care spans the breadth of otolaryngology.
4 Laryngoscope, 133:1501-1506, 2023.
摘要：
目的：在过去的二十年中，13三体和18三体患者的生存率急剧增加。我们试图全面描述这些患者在我们机构所需的耳鼻喉临床特征和程序。
方法：我们对诊断为13三体和18三体的患者进行了算法鉴定，在1997年2月至2021年3月期间，耳鼻喉科服务机构在我们机构提供了住院或门诊护理。
结果：在研究的47例患者中，18例患者诊断为13三体，29例诊断为18三体。44％（8/18）的三体性13患者和55％（16/29）的三体性18患者存在完全三体性。81%的患者在研究时还活着。约94％（44/47）的患者除耳鼻喉科外还需要咨询其他专业。总的来说,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％）的患者需要耳鼻喉手术。最常见的外科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18三体的患者通常需要多学科管理，所需护理的范围涵盖耳鼻喉科的广度。
方法：4喉镜，133:1501-1506，2023年。
方法：我们对诊断为13三体和18三体的患者进行了算法鉴定，在1997年2月至2021年3月期间，耳鼻喉科服务机构在我们机构提供了住院或门诊护理。
结果：在研究的47例患者中，18例患者诊断为13三体，29例诊断为18三体。44％（8/18）的三体性13患者和55％（16/29）的三体性18患者存在完全三体性。81%的患者在研究时还活着。约94％（44/47）的患者除耳鼻喉科外还需要咨询其他专业。总的来说,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％）的患者需要耳鼻喉手术。最常见的外科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18三体的患者通常需要多学科管理，所需护理的范围涵盖耳鼻喉科的广度。
方法：4喉镜，133:1501-1506，2023年。
