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

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

Case Rep Pediatr. 2015:2015:938074. doi: 10.1155/2015/938074. Epub 2015 Dec 17.

Authors

Gianluigi Laccetta¹, Benedetta Toschi², Antonella Fogli³, Veronica Bertini³, Angelo Valetto³, Rita Consolini¹

Affiliations

¹ Pediatric Department, Faculty of Medicine, Rheumatology and Clinical Immunology Unit, Pisa University, 56126 Pisa, Italy.
² Medical Genetics Unit, Children Department, Pisa University, 56126 Pisa, Italy.
³ Cytogenetics and Molecular Genetics Unit, Children Department, Pisa University, 56126 Pisa, Italy.

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.