Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?

Gianluigi Laccetta; Benedetta Toschi; Antonella Fogli; Veronica Bertini; Angelo Valetto; Rita Consolini

doi:10.1155/2015/938074

Case Reports in Pediatrics (Jan 2015)

Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?

Gianluigi Laccetta,
Benedetta Toschi,
Antonella Fogli,
Veronica Bertini,
Angelo Valetto,
Rita Consolini

Affiliations

Gianluigi Laccetta: Pediatric Department, Faculty of Medicine, Rheumatology and Clinical Immunology Unit, Pisa University, 56126 Pisa, Italy
Benedetta Toschi: Medical Genetics Unit, Children Department, Pisa University, 56126 Pisa, Italy
Antonella Fogli: Cytogenetics and Molecular Genetics Unit, Children Department, Pisa University, 56126 Pisa, Italy
Veronica Bertini: Cytogenetics and Molecular Genetics Unit, Children Department, Pisa University, 56126 Pisa, Italy
Angelo Valetto: Cytogenetics and Molecular Genetics Unit, Children Department, Pisa University, 56126 Pisa, Italy
Rita Consolini: Pediatric Department, Faculty of Medicine, Rheumatology and Clinical Immunology Unit, Pisa University, 56126 Pisa, Italy

DOI: https://doi.org/10.1155/2015/938074
Journal volume & issue: Vol. 2015

Abstract

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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.

Published in Case Reports in Pediatrics

ISSN: 2090-6803 (Print); 2090-6811 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Medicine: Pediatrics
Website: https://onlinelibrary.wiley.com/journal/2920

About the journal