儿童早期22q11.2缺失综合征的临床特征

Q3 Medicine
V. Antonyan, A. Shakirova, A.A. Vyalykh, P. Shumilov, H. Sarkisyan, I. Moreno, Yulia Petrova, A. Poghosyan
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引用次数: 0

摘要

迪乔治综合征的特点是圆锥状心脏缺陷、免疫缺陷状态和甲状旁腺发育不全。当代医学描述了180多种这种疾病的临床形式,通常归类在“染色体22q11.2缺失综合征”(D 82.1)的标题下。除了上述异常外,22q11.2DS还存在其他畸形和病理情况,不仅使诊断、新生儿护理和进一步治疗复杂化,而且导致手术干预的频率增加。本文报告8例22q11.2DS合并多种先天性疾病的临床病例。观察的患儿有中枢神经、颌面、泌尿生殖系统、肌肉骨骼系统、肛肠区、膈疝和腹股沟疝等畸形。关键词:多发性先天性疾病,22q11.2缺失综合征,DiGeorge综合征,锥形先天性心脏缺陷,唇腭裂,肛肠畸形,甲状旁腺功能低下,言语和精神运动发育迟缓,原发性免疫缺陷
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical features of 22q11.2 deletion syndrome in early childhood
DiGeorge syndrome is characterized by conotruncal heart defects, an immunodeficiency state, and underdeveloped parathyroid glands. Contemporary medicine describes more than 180 clinical forms of this disease, which are usually classified under the heading “chromosome 22q11.2 deletion syndrome” (D 82.1). Along with the above abnormalities, there are other malformations and pathological conditions in 22q11.2DS that not only complicate diagnosis, neonatal nursing, and further management, but also lead to an increased frequency of surgical interventions. This article presents 8 clinical cases of 22q11.2DS with multiple congenital disorders. The children under observation had malformations of the central nervous, maxillofacial, genitourinary, musculoskeletal systems, anorectal region, as well as diaphragmatic and inguinal hernias. Key words: multiple congenital disorders, 22q11.2 deletion syndrome, DiGeorge syndrome, conotruncal congenital heart defects, cleft lip and palate, anorectal malformations, hypoparathyroidism, delayed speech and psychomotor development, primary immunodeficiency
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来源期刊
Voprosy Detskoi Dietologii
Voprosy Detskoi Dietologii Medicine-Pediatrics, Perinatology and Child Health
CiteScore
1.20
自引率
0.00%
发文量
17
期刊介绍: The scientific journal Voprosy Detskoi Dietologii is included in the Scopus database. Publisher country is RU. The main subject areas of published articles are Food Science, Pediatrics, Perinatology, and Child Health, Nutrition and Dietetics, Клиническая медицина.
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