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

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...

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Autores principales: Laccetta, Gianluigi, Toschi, Benedetta, Fogli, Antonella, Bertini, Veronica, Valetto, Angelo, Consolini, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4697090/
https://www.ncbi.nlm.nih.gov/pubmed/26793401
http://dx.doi.org/10.1155/2015/938074
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author Laccetta, Gianluigi
Toschi, Benedetta
Fogli, Antonella
Bertini, Veronica
Valetto, Angelo
Consolini, Rita
author_facet Laccetta, Gianluigi
Toschi, Benedetta
Fogli, Antonella
Bertini, Veronica
Valetto, Angelo
Consolini, Rita
author_sort Laccetta, Gianluigi
collection PubMed
description 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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spelling pubmed-46970902016-01-20 Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome? Laccetta, Gianluigi Toschi, Benedetta Fogli, Antonella Bertini, Veronica Valetto, Angelo Consolini, Rita Case Rep Pediatr Case Report 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. Hindawi Publishing Corporation 2015 2015-12-17 /pmc/articles/PMC4697090/ /pubmed/26793401 http://dx.doi.org/10.1155/2015/938074 Text en Copyright © 2015 Gianluigi Laccetta et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Laccetta, Gianluigi
Toschi, Benedetta
Fogli, Antonella
Bertini, Veronica
Valetto, Angelo
Consolini, Rita
Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
title Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
title_full Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
title_fullStr Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
title_full_unstemmed Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
title_short Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
title_sort clinical phenotype of digeorge syndrome with negative genetic tests: a case of digeorge-like syndrome?
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4697090/
https://www.ncbi.nlm.nih.gov/pubmed/26793401
http://dx.doi.org/10.1155/2015/938074
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