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) |
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Hauptverfasser: | , , , , , , |
Format: | Artikel |
Sprache: | eng |
Online-Zugang: | Volltext |
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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. |
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ISSN: | 2251-8150 2251-8177 |
DOI: | 10.5812/compreped-129997 |