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

Case Rep Pediatr

Pediatric Department, Faculty of Medicine, Rheumatology and Clinical Immunology Unit, Pisa University, 56126 Pisa, Italy.

Published: January 2016

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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4697090PMC
http://dx.doi.org/10.1155/2015/938074DOI Listing

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