J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
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Metatropic Dysplasia and Other TRPV4-Related Skeletal Dysplasias
This chapter discusses metatropic dysplasia and other TRPV4-related skeletal dysplasias, including spondyloepiphyseal dysplasia (Maroteaux type), spondylometaphyseal dysplasia (Kozlowski type), brachyolmia (autosomal dominant), and familial digital arthropathy with brachydactyly. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
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