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Metatropic Dysplasia and Other TRPV4-Related Skeletal Dysplasias 

Metatropic Dysplasia and Other TRPV4-Related Skeletal Dysplasias
Chapter:
Metatropic Dysplasia and Other TRPV4-Related Skeletal Dysplasias
Author(s):

Jürgen W. Spranger

, Paula W. Brill

, Christine Hall

, Gen Nishimura

, Andrea Superti-Furga

, and Sheila Unger

DOI:
10.1093/med/9780190626655.003.0006
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date: 05 April 2020

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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