Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?. (17th December 2015)

• Record Type: Journal Article
• Authors: Laccetta, Gianluigi; Toschi, Benedetta; Fogli, Antonella; Bertini, Veronica; Valetto, Angelo; Consolini, Rita
• Other Names: Muraskas Jonathan Academic Editor.
• Is Part Of: Case reports in pediatrics. Volume 2015(2015)
• Publication Date: 2015-12-17
• Subjects: Pediatrics -- Periodicals; Pediatrics; Pediatrics; Electronic journals; Periodicals; Case Reports; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 618.92
• DOI: 10.1155/2015/938074
• Languages: English
• ISSNs: 2090-6803

Abstract

Abstract : We report a case of DiGeorge-like syndrome in which immunodeficiency coexisting with juvenile idiopathic arthritis, congenital heart disease, delay in emergence of language and in motor milestones, feeding and growing problems, enamel hypoplasia, mild skeletal anomalies, and facial dysmorphisms are associated with no abnormalities found on genetic tests.