Cornelia de Lange Syndrome: A Case Report with a Novel Congenital Heart Disease Association

Journal of Comprehensive Pediatrics

article

Mohammad S. Khoshhal¹  Najia Alrabghy²  Sabreen Almutery²  Abdulsalam D. Alawfi³  Hany M. Abo-Haded³  Mohammad D. Allugmani²  Mazen K. El-Harbi¹ 

[1] Faculty of Medicine, Taibah University;Pediatric Cardiology Unit, Department of Pediatrics, Maternity and Children Hospital;Department of Pediatrics, Faculty of Medicine, Taibah University;Department of Pediatrics, Faculty of Medicine, Mansoura University

关键词: Cornelia de Lange Syndrome;    Craniofacial;    Congenital Heart Defects;    Multidisciplinary Approach;   

DOI  :  10.5812/compreped-129997

来源: Kowsarmedical

【 摘 要 】

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 with 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.

【 授权许可】

Unknown