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常染色体显性短肢症：暂时性干骺端条纹征

Autosomal dominant brachyolmia: transient metaphyseal striations.

作者信息

Lim Yun-Jung, Lee Hye-Ran, Kim Ok-Hwa, Cho Tae-Joon, Park Kun-Bo

机构信息

Department of Radiology, Inje University Haeundae Paik Hospital, 875, Haeun-daero, Haeundae-gu, Busan, 48108, South Korea.

Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, 101, Daehak-ro, Jongno-gu, Seoul, 03080, South Korea.

出版信息

Skeletal Radiol. 2017 Sep;46(9):1297-1300. doi: 10.1007/s00256-017-2684-8. Epub 2017 Jun 10.

DOI:10.1007/s00256-017-2684-8
PMID:28601949
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.

摘要

我们报告了常染色体显性短肢性侏儒症中此前未被描述过的股骨近端和远端干骺端短暂性条纹。一名13岁男孩的骨盆/髋部X线片显示双侧股骨近端干骺端垂直条纹对称。在股骨远端和胫骨近端干骺端也观察到了额外的垂直条纹。胸腰椎X线片显示椎体扁平，终板不规则，椎弓根重叠。该患者经证实存在TRPV4突变。在患者的兄弟姐妹中也发现了类似的股骨近端干骺端垂直条纹。这些条纹在随访X线片中消失了，我们认为这是常染色体显性短肢性侏儒症中暂时观察到的一种独特的放射学表现。

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本文引用的文献

1
Autosomal recessive brachyolmia: early radiological findings.常染色体隐性短肢侏儒症：早期影像学表现
Skeletal Radiol. 2016 Nov;45(11):1557-60. doi: 10.1007/s00256-016-2458-8. Epub 2016 Aug 21.
2
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.一个瑞典大家族中的常染色体显性短肢症：表型谱及自然病程
Am J Med Genet A. 2014 Jul;164A(7):1635-41. doi: 10.1002/ajmg.a.36502. Epub 2014 Mar 26.
3
TRPV4-associated skeletal dysplasias.TRPV4 相关骨骼发育不良。
Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):190-204. doi: 10.1002/ajmg.c.31335. Epub 2012 Jul 12.
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The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).常规放射学在骨骼发育不良突变分析（TRPV4 突变家族）中的重要性。
Pediatr Radiol. 2012 Jan;42(1):15-23. doi: 10.1007/s00247-011-2229-6. Epub 2011 Aug 24.
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Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.新型和反复出现的 TRPV4 突变及其与 TRPV4 发育不良家族中不同表型的关联。
J Med Genet. 2010 Oct;47(10):704-9. doi: 10.1136/jmg.2009.075358. Epub 2010 Jun 24.
6
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.马罗托克斯型脊椎-干骺端发育不良（假性粘多糖贮积症 2 型）和副韧帯营养不良症是由 TRPV4 突变引起的。
Am J Med Genet A. 2010 Jun;152A(6):1443-9. doi: 10.1002/ajmg.a.33414.
7
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.TRPV4功能获得性突变导致常染色体显性短肢症。
Nat Genet. 2008 Aug;40(8):999-1003. doi: 10.1038/ng.166. Epub 2008 Jun 29.
8
Brachyolmia: radiographic and genetic evidence of heterogeneity.短肢侏儒症：异质性的影像学和遗传学证据。
Am J Med Genet. 1989 Jun;33(2):209-19. doi: 10.1002/ajmg.1320330214.