Cornelia de Lange Syndrome: A Case Report with a Novel Congenital Heart Disease Association
| Author | Mohammad D. Allugmani | en |
| Author | Mazen K. El-Harbi | en |
| Author | Mohammad S. Khoshhal | en |
| Author | Najia Alrabghy | en |
| Author | Sabreen Almutery | en |
| Author | Abdulsalam D. Alawfi | en |
| Author | Hany M. Abo-Haded | en |
| Orcid | Hany M. Abo-Haded [0000-0003-1343-9031] | en |
| Issued Date | 2022-11-30 | en |
| 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. | en |
| DOI | https://doi.org/10.5812/compreped-129997 | en |
| Keyword | Cornelia de Lange Syndrome | en |
| Keyword | Craniofacial | en |
| Keyword | Congenital Heart Defects | en |
| Keyword | Multidisciplinary Approach | en |
| Publisher | Brieflands | en |
| Title | Cornelia de Lange Syndrome: A Case Report with a Novel Congenital Heart Disease Association | en |
| Type | Case Report | en |