Title of article :
Cornelia de Lange Syndrome: A Case Report with a Novel Congenital Heart Disease Association
Author/Authors :
Allugmani ، Mohammad D. Pediatric Cardiology Unit, Department of Pediatrics - Maternity and Children Hospital (MCH) , El-Harbi ، Mazen K. Faculty of Medicine - Taibah University , Khoshhal ، Mohammad S. Faculty of Medicine - Taibah University , Alrabghy ، Najia Pediatric Cardiology Unit, Department of Pediatrics - Maternity and Children Hospital (MCH) , Almutery ، Sabreen Pediatric Cardiology Unit, Department of Pediatrics - Maternity and Children Hospital (MCH) , Alawfi ، Abdulsalam D. Department of Pediatrics - Faculty of Medicine - Taibah University , Abo-Haded ، Hany M. Department of Pediatrics - Faculty of Medicine - Taibah University
Abstract :
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.
Keywords :
Cornelia de Lange Syndrome , Craniofacial , Congenital Heart Defects , Multidisciplinary Approach
Journal title :
Journal of Comprehensive Pediatrics
Journal title :
Journal of Comprehensive Pediatrics
