Multiple Intestinal Anomalies in a Newborn with 22q11.2 Microdeletion Syndrome: A Case Report and Literature Review.
J Pediatr Genet
; 13(3): 237-244, 2024 Sep.
Article
em En
| MEDLINE
| ID: mdl-39086451
ABSTRACT
Although 40 years have passed since the first case of DiGeorge's syndrome was described, and the knowledge about this disorder has steadily increased since that time, 22q11.2 deletion syndrome (DS) remains a challenging diagnosis because its clinical presentation varies widely. We describe an infant with 22q11.2 DS who presented with annular pancreas, anorectal malformation, Morgagni-type congenital diaphragmatic hernia, and ventricular septal defect. This constellation of anomalies has never been described in DiGeorge's syndrome. Here, we provide a case presentation and a thorough review of the literature.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
J Pediatr Genet
Ano de publicação:
2024
Tipo de documento:
Article