克-费综合征合并发育不良胸廓和脊柱继发三尖瓣反流及心肺窘迫：1例报告
Klippel Feil Syndrome presenting with tricuspid regurgitation and cardiopulmonary distress secondary to dysplastic thoracic cage and spine: A case report.
作者信息
Naz Sidra, Susheela Ammu Thampi, Jaiswal Vikash, Quinonez Jon, Patel Srushti, Shrestha Abhigan Babu
机构信息
University of Health Science, Lahore, Pakistan.
The University of Texas, MD Anderson Cancer Center, Texas, USA.
出版信息
Ann Med Surg (Lond). 2022 Sep 8;82:104546. doi: 10.1016/j.amsu.2022.104546. eCollection 2022 Oct.
BACKGROUND
Klippel Feil syndrome is a rare multifactorial disease that occurs due to a combination of genetic and environmental factors. It is a complex disease that requires lifelong treatment by multidisciplinary teams.
CASE REPORT
We present a case of a 15-year-old girl who presented with fever and shortness of breath and was found to have Klippel Feil Syndrome with a unique presentation of tricuspid regurgitation with cardiopulmonary distress secondary to dysplastic thoracic cage and spine.
DISCUSSION
Patients with Klippel feil syndrome are at increased risk for infection and cardiovascular problems. Proper surgical and medical management are required for patient wellbeing. Delay in diagnosis and management can be fatal with worse outcome
背景
克-费二氏综合征是一种罕见的多因素疾病，由遗传和环境因素共同作用引起。它是一种复杂疾病，需要多学科团队进行终身治疗。
病例报告
我们报告一例15岁女孩，她出现发热和呼吸急促症状，经检查发现患有克-费二氏综合征，其独特表现为三尖瓣反流，并伴有发育不良的胸廓和脊柱导致的心肺功能不全。
讨论
克-费二氏综合征患者感染和心血管问题的风险增加。为了患者的健康，需要进行适当的手术和药物治疗。诊断和治疗的延迟可能是致命的，会导致更糟糕的结果。
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