A child with a novel ACAN missense variant mimicking a septic arthritis

Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvement mimicking septic arthritis who carried the new ACAN missense variant c.6970 T > C,...

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Autores principales: Florio, Angelo, Papa, Riccardo, Caorsi, Roberta, Consolaro, Alessandro, Gastaldi, Roberto, Gattorno, Marco, Picco, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868685/
https://www.ncbi.nlm.nih.gov/pubmed/31747937
http://dx.doi.org/10.1186/s13052-019-0719-6
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author Florio, Angelo
Papa, Riccardo
Caorsi, Roberta
Consolaro, Alessandro
Gastaldi, Roberto
Gattorno, Marco
Picco, Paolo
author_facet Florio, Angelo
Papa, Riccardo
Caorsi, Roberta
Consolaro, Alessandro
Gastaldi, Roberto
Gattorno, Marco
Picco, Paolo
author_sort Florio, Angelo
collection PubMed
description Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvement mimicking septic arthritis who carried the new ACAN missense variant c.6970 T > C, p.Trp2324Arg. The comprehensive clinical evaluation of the patient and his family, focused on the associated clinical features (facial dysmorphisms, short stature, brachydactily), led us to suspect a hereditary condition. Our findings suggest that Aggrecanopathies should be considered in children with familial short stature, poor growth spurt and joint involvement.
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spelling pubmed-68686852019-12-12 A child with a novel ACAN missense variant mimicking a septic arthritis Florio, Angelo Papa, Riccardo Caorsi, Roberta Consolaro, Alessandro Gastaldi, Roberto Gattorno, Marco Picco, Paolo Ital J Pediatr Letter to the Editor Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvement mimicking septic arthritis who carried the new ACAN missense variant c.6970 T > C, p.Trp2324Arg. The comprehensive clinical evaluation of the patient and his family, focused on the associated clinical features (facial dysmorphisms, short stature, brachydactily), led us to suspect a hereditary condition. Our findings suggest that Aggrecanopathies should be considered in children with familial short stature, poor growth spurt and joint involvement. BioMed Central 2019-11-20 /pmc/articles/PMC6868685/ /pubmed/31747937 http://dx.doi.org/10.1186/s13052-019-0719-6 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Letter to the Editor
Florio, Angelo
Papa, Riccardo
Caorsi, Roberta
Consolaro, Alessandro
Gastaldi, Roberto
Gattorno, Marco
Picco, Paolo
A child with a novel ACAN missense variant mimicking a septic arthritis
title A child with a novel ACAN missense variant mimicking a septic arthritis
title_full A child with a novel ACAN missense variant mimicking a septic arthritis
title_fullStr A child with a novel ACAN missense variant mimicking a septic arthritis
title_full_unstemmed A child with a novel ACAN missense variant mimicking a septic arthritis
title_short A child with a novel ACAN missense variant mimicking a septic arthritis
title_sort child with a novel acan missense variant mimicking a septic arthritis
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868685/
https://www.ncbi.nlm.nih.gov/pubmed/31747937
http://dx.doi.org/10.1186/s13052-019-0719-6
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