title: Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
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.
authors.affiliation: Pediatric Department, Faculty of Medicine, Rheumatology and Clinical Immunology Unit, Pisa University, 56126 Pisa, Italy.
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Laccetta
authors.affiliation: Medical Genetics Unit, Children Department, Pisa University, 56126 Pisa, Italy.
authors.forename: Benedetta
authors.initials: B
authors.lastname: Toschi
authors.affiliation: Cytogenetics and Molecular Genetics Unit, Children Department, Pisa University, 56126 Pisa, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Fogli
authors.affiliation: Cytogenetics and Molecular Genetics Unit, Children Department, Pisa University, 56126 Pisa, Italy.
authors.forename: Veronica
authors.initials: V
authors.lastname: Bertini
authors.affiliation: Cytogenetics and Molecular Genetics Unit, Children Department, Pisa University, 56126 Pisa, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Valetto
authors.affiliation: Pediatric Department, Faculty of Medicine, Rheumatology and Clinical Immunology Unit, Pisa University, 56126 Pisa, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Consolini