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

Autor:	Mohammad D. Allugmani, Mazen K. El-Harbi, Mohammad S. Khoshhal, Najia Alrabghy, Sabreen Almutery, Abdulsalam D. Alawfi, Hany M. Abo-Haded
Rok vydání:	2022
Předmět:	Pediatrics Perinatology and Child Health
Zdroj:	Journal of Comprehensive Pediatrics. 13
ISSN:	2251-8177 2251-8150
DOI:	10.5812/compreped-129997
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::08c58c9d97dba143c149688b1817e9d6 https://doi.org/10.5812/compreped-129997 Zobrazit plný text záznamu