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Pediatr Radiol. 2012 Jan;42(1):15-23. doi: 10.1007/s00247-011-2229-6. Epub 2011 Aug 24.

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).

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1
International Skeletal Dysplasia Registry, Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048, USA. stefan.nemec@meduniwien.ac.at

Abstract

The spondylo and spondylometaphyseal dysplasias (SMDs) are characterized by vertebral changes and metaphyseal abnormalities of the tubular bones, which produce a phenotypic spectrum of disorders from the mild autosomal-dominant brachyolmia to SMD Kozlowski to autosomal-dominant metatropic dysplasia. Investigations have recently drawn on the similar radiographic features of those conditions to define a new family of skeletal dysplasias caused by mutations in the transient receptor potential cation channel vanilloid 4 (TRPV4). This review demonstrates the significance of radiography in the discovery of a new bone dysplasia family due to mutations in a single gene.

PMID:
21863289
DOI:
10.1007/s00247-011-2229-6
[Indexed for MEDLINE]
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