Journal
PEDIATRIC RADIOLOGY
Volume 42, Issue 1, Pages 15-23Publisher
SPRINGER
DOI: 10.1007/s00247-011-2229-6
Keywords
Skeletal dysplasias; Spondylometaphyseal dysplasias; TRPV4; Radiography
Funding
- National Institutes of Health [5P01 HD022657-25]
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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.
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