Mohammad D. Allugmani, Mazen K. El-Harbi, Mohammad S. Khoshhal, Najia Alrabghy, Sabreen Almutery, Abdulsalam Alawfi, H. Abo-Haded
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引用次数: 0
摘要
简介:Cornelia de Lange综合征(CdLS)是一种罕见的非遗传性综合征。关键的诊断是独特的面部特征、肢体异常和生长迟缓。心脏缺陷和胃肠道及泌尿生殖系统异常可能相关。病例介绍:这是一个新生儿CdLS的病例,我们认为这是一个有趣的病例,因为它与一种新的先天性心脏复合体有关。结论:CdLS患者先天性心脏病(CHD)发病率高,建议对所有这些患者进行心脏学研究。
Cornelia de Lange Syndrome: A Case Report with a Novel Congenital Heart Disease Association
Introduction: Cornelia de Lange syndrome (CdLS) is a rare non-hereditary syndrome. The key diagnosis is unique facial features, limb anomalies, and growth retardation. Cardiac defects and gastrointestinal and genitourinary anomalies may be associated. Case Presentation: This is a case of neonatal CdLS that we think is interesting due to its association with a novel congenital heart complex. Conclusions: Patients with CdLS have a high incidence of congenital heart disease (CHD), so a cardiologic study of all of these patients is suggested.
期刊介绍:
Journal of Comprehensive Pediatrics is the official publication of Iranian Society of Pediatrics (ISP) and a peer-reviewed medical journal which is published quarterly. It is informative for all practicing pediatrics including general medical profession.