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

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

Format: Article
Diterbitkan: Hindawi Limited 2015-01-01

Deskripsi

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.