A nine-year-old patient affected by chromosomal aberration with the suspicion of juvenile idiopathic arthritis

We present a case study of a 9.5-year-old girl affected by chromosome 12 aberration with the suspicion of juvenile idiopathic arthritis (JIA). All the tests performed at the hospital and the presence of a genetic disorder ledus to search for a diagnosisother than JIA. We initially diagnosed spondylo...

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Autores principales: Żuber, Zbigniew, Nawrotek, Magdalena, Sobczyk, Małgorzata, Mężyk, Elżbieta, Turowska-Heydel, Dorota
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911660/
https://www.ncbi.nlm.nih.gov/pubmed/29686445
http://dx.doi.org/10.5114/reum.2018.74754
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author Żuber, Zbigniew
Nawrotek, Magdalena
Sobczyk, Małgorzata
Mężyk, Elżbieta
Turowska-Heydel, Dorota
author_facet Żuber, Zbigniew
Nawrotek, Magdalena
Sobczyk, Małgorzata
Mężyk, Elżbieta
Turowska-Heydel, Dorota
author_sort Żuber, Zbigniew
collection PubMed
description We present a case study of a 9.5-year-old girl affected by chromosome 12 aberration with the suspicion of juvenile idiopathic arthritis (JIA). All the tests performed at the hospital and the presence of a genetic disorder ledus to search for a diagnosisother than JIA. We initially diagnosed spondyloepiphyseal dysplasia tarda (SEDT), which is related to chromosome 12. Certain signs and symptoms of this disease were presented by our patient at the time of admission. After analysing all the tests and the general conditionof the patient, we were unable to confirm this diagnosis. However, it is possible that the symptoms may occur during subsequentyears and may allow confirmation of SEDT in the future.
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spelling pubmed-59116602018-04-23 A nine-year-old patient affected by chromosomal aberration with the suspicion of juvenile idiopathic arthritis Żuber, Zbigniew Nawrotek, Magdalena Sobczyk, Małgorzata Mężyk, Elżbieta Turowska-Heydel, Dorota Reumatologia Case Report We present a case study of a 9.5-year-old girl affected by chromosome 12 aberration with the suspicion of juvenile idiopathic arthritis (JIA). All the tests performed at the hospital and the presence of a genetic disorder ledus to search for a diagnosisother than JIA. We initially diagnosed spondyloepiphyseal dysplasia tarda (SEDT), which is related to chromosome 12. Certain signs and symptoms of this disease were presented by our patient at the time of admission. After analysing all the tests and the general conditionof the patient, we were unable to confirm this diagnosis. However, it is possible that the symptoms may occur during subsequentyears and may allow confirmation of SEDT in the future. Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie 2018-02-28 2018 /pmc/articles/PMC5911660/ /pubmed/29686445 http://dx.doi.org/10.5114/reum.2018.74754 Text en Copyright: © 2018 Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie http://creativecommons.org/licenses/by-nc-sa/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
spellingShingle Case Report
Żuber, Zbigniew
Nawrotek, Magdalena
Sobczyk, Małgorzata
Mężyk, Elżbieta
Turowska-Heydel, Dorota
A nine-year-old patient affected by chromosomal aberration with the suspicion of juvenile idiopathic arthritis
title A nine-year-old patient affected by chromosomal aberration with the suspicion of juvenile idiopathic arthritis
title_full A nine-year-old patient affected by chromosomal aberration with the suspicion of juvenile idiopathic arthritis
title_fullStr A nine-year-old patient affected by chromosomal aberration with the suspicion of juvenile idiopathic arthritis
title_full_unstemmed A nine-year-old patient affected by chromosomal aberration with the suspicion of juvenile idiopathic arthritis
title_short A nine-year-old patient affected by chromosomal aberration with the suspicion of juvenile idiopathic arthritis
title_sort nine-year-old patient affected by chromosomal aberration with the suspicion of juvenile idiopathic arthritis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911660/
https://www.ncbi.nlm.nih.gov/pubmed/29686445
http://dx.doi.org/10.5114/reum.2018.74754
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