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01-08-2021 | Magnetic Resonance Imaging | Case Report

Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy

Authors: Christina F. Jack, Krista L. Birkemeier, Jose M. Santiago, Colleen F. Macmurdo, Matthew B. Crisp

Published in: Pediatric Radiology | Issue 9/2021

Abstract

This case report of a 14-year-old boy with arthralgia and clinically suspected inflammatory arthropathy highlights how magnetic resonance imaging (MRI) ultimately diagnosed skeletal dysplasia. A genetic evaluation revealed a transient receptor potential vanilloid 4 (TRPV4) pathogenic variant. This is a rare description of the MRI appearance of this type of dysplasia in long bone epiphyses corresponding with the histological findings of disrupted endochondral ossification. This report offers imaging support to the description of endochondral bone growth disruption in TRPV4-related skeletal dysplasias.

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Title: Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy
Authors: Christina F. Jack
Krista L. Birkemeier
Jose M. Santiago
Colleen F. Macmurdo
Matthew B. Crisp
Publication date: 01-08-2021
Publisher: Springer Berlin Heidelberg
Keywords: Magnetic Resonance Imaging
Magnetic Resonance Imaging
Juvenile Rheumatoid Arthritis
Juvenile Rheumatoid Arthritis
Published in: Pediatric Radiology / Issue 9/2021
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI: https://doi.org/10.1007/s00247-021-05027-6

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Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy

Abstract

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