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

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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.

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Acknowledgment

The authors wish to thank Ms. Mary McAllister (John Hopkins University, Baltimore, MD) for her assistance in editing the manuscript. This work has been supported by a grant from the National Institutes of Health (5P01 HD022657-25).

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Authors and Affiliations

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

    Stefan F. Nemec, Daniel H. Cohn, Deborah Krakow, Vincent A. Funari, David L. Rimoin & Ralph S. Lachman

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  1. Stefan F. Nemec
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  2. Daniel H. Cohn
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  3. Deborah Krakow
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  4. Vincent A. Funari
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  5. David L. Rimoin
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  6. Ralph S. Lachman
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Correspondence to Stefan F. Nemec.

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Nemec, S.F., Cohn, D.H., Krakow, D. et al. The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Pediatr Radiol 42, 15–23 (2012). https://doi.org/10.1007/s00247-011-2229-6

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