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

• Main Authors: Gianluigi Laccetta (Author), Benedetta Toschi (Author), Antonella Fogli (Author), Veronica Bertini (Author), Angelo Valetto (Author), Rita Consolini (Author)
• Format: Book
• Published: Hindawi Limited, 2015-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...