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乌克兰外喀尔巴阡地区的青年综合征病例

THE CASE OF JEUNE SYNDROME AMONG THE PRECARPATHIAN POPULATION.

机构信息

IVANO-FRANKIVSK NATIONAL MEDICAL UNIVERSITY, IVANO-FRANKIVSK, UKRAINE.

IVANO-FRANKIVSK REGIONAL CHILDREN'S HOSPITAL, IVANO-FRANKIVSK, UKRAINE.

出版信息

Wiad Lek. 2021;74(10 pt 1):2520-2524.

Abstract

Despite the fact that Jeune syndrome is rather rare, neonatologists and pediatricians need to be aware of this pathology. This will facilitate early diagnostics of the condition and aid in the choice of the most adequate algorithms for its monitoring and treatment. The aim: To describe the case of Jeune syndrome among the Precarpathian population. Infant patient with Jeune syndrome and relevant medical records. Methods used in the study: clinical-genealogical and syndromal analysis, general clinical examination, radiologic method, including computed tomography (CТ) scan with 3D image reconstruction, methods of ultrasound diagnostics. The study was conducted in accordance with the Declaration of Helsinki Ethical Principles. The newborn baby was diagnosed with asphyxiating thoracic dystrophy on the basis of personal observation and conducted complex examination. According to the literature, this syndrome is rarely diagnosed in this age group. The diagnosis was based on the clinical and phenotypic manifestations of the syndrome, primarily on the characteristic association of symptoms of specific chest deformity and severe respiratory failure with oxygen dependence in the patient. Skeletal and pulmonary changes on radiographs and computed tomography scans were rather indicative. Brief follow-up data on the patient at the age of nine months are given.

摘要

尽管 Jeune 综合征较为罕见,但新生儿科医生和儿科医生仍需要对此种疾病保持警惕。这将有助于早期诊断该疾病,并有助于选择最合适的监测和治疗方案。目的:描述喀尔巴阡地区 Jeune 综合征的病例。患有 Jeune 综合征的婴儿患者及其相关病历。研究中使用的方法:临床-遗传和综合征分析、一般临床检查、放射学方法,包括计算机断层扫描(CT)和三维图像重建、超声诊断方法。该研究符合赫尔辛基伦理原则宣言。根据个人观察和综合检查,新生儿被诊断为胸壁发育不良伴发呼吸窘迫。根据文献,这种综合征在这个年龄段很少被诊断。该诊断基于综合征的临床和表型表现,主要是特定胸部畸形和严重呼吸衰竭与患者对氧气的依赖的特征性关联。X 线片和 CT 扫描上的骨骼和肺部变化具有指示性。给出了患者九个月大时的简要随访数据。

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