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 with gastrointestinal and genitourinary anomalies may be associated. Case Presentation: This is a case of neonatal C...

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Veröffentlicht in:Journal of comprehensive pediatrics 2022-10, Vol.13 (4)
Hauptverfasser: Allugmani, Mohammad D., El-Harbi, Mazen K., Khoshhal, Mohammad S., Alrabghy, Najia, Almutery, Sabreen, Alawfi, Abdulsalam D., Abo-Haded, Hany M.
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Sprache:eng
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Zusammenfassung: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.
ISSN:2251-8150
2251-8177
DOI:10.5812/compreped-129997