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Autosomal dominant brachyolmia: transient metaphyseal striations

Authors
 Yun-Jung Lim  ;  Hye-Ran Lee  ;  Ok-Hwa Kim  ;  Tae-Joon Cho  ;  Kun-Bo Park 
Citation
 SKELETAL RADIOLOGY, Vol.46(9) : 1297-1300, 2017 
Journal Title
 SKELETAL RADIOLOGY 
ISSN
 0364-2348 
Issue Date
2017
MeSH
Adolescent ; Child ; Diagnosis, Differential ; Humans ; Male ; Osteochondrodysplasias/diagnostic imaging*
Keywords
Brachyolmia ; Metaphyseal striations ; TRPV4
Abstract
We report transient proximal and distal femoral metaphyseal striations that have not previously been described in autosomal dominant brachyolmia. The pelvis/hip radiograph of a 13-year-old boy demonstrated bilaterally symmetrical proximal femoral metaphyseal vertical striations. Additional vertical striations were also observed at the distal femur and proximal tibia metaphysis. Radiography of the thoracolumbar spine demonstrated platyspondyly with irregular endplates and overfaced pedicles. TRPV4 mutations were confirmed in this patient. Similar proximal femoral metaphyseal vertical striations were noted in the patient's sibling. Those streaks disappeared on the follow-up radiographs, and we considered it a unique radiologic finding transiently observed in autosomal dominant brachyolmia.
Full Text
https://link.springer.com/article/10.1007%2Fs00256-017-2684-8
DOI
10.1007/s00256-017-2684-8
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Orthopedic Surgery (정형외과학교실) > 1. Journal Papers
Yonsei Authors
Park, Kun Bo(박건보) ORCID logo https://orcid.org/0000-0002-8839-4870
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/160795
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