Academic Journal
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 |
|---|---|
| Authors: | Angelo Florio, Riccardo Papa, Roberta Caorsi, Alessandro Consolaro, Roberto Gastaldi, Marco Gattorno, Paolo Picco |
| Source: | Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-3 (2019) |
| Publisher Information: | BMC, 2019. |
| Publication Year: | 2019 |
| Collection: | LCC:Pediatrics |
| Subject Terms: | Pediatric rheumatology, Arthritis, Osteochondritis dissecans, ACAN, Aggrecanopathy, Pediatrics, RJ1-570 |
| More Details: | Abstract 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. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 1824-7288 |
| Relation: | http://link.springer.com/article/10.1186/s13052-019-0719-6; https://doaj.org/toc/1824-7288 |
| DOI: | 10.1186/s13052-019-0719-6 |
| Access URL: | https://doaj.org/article/23d7151bef134996b5d8fa77ab79cdb0 |
| Accession Number: | edsdoj.23d7151bef134996b5d8fa77ab79cdb0 |
| Database: | Directory of Open Access Journals |
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