脊椎干骺端发育不良：一种罕见疾病。 - Suppr

Spondylometaphyseal dysplasia: an uncommon disease.

作者信息

Duarte Márcio Luís, Duarte Élcio Roberto, Solorzano Daniela Brasil, Solorzano Edgar Brasil, Ferreira Jael Brasil de Alcântara

机构信息

WebImagem, São Paulo, SP, Brazil.

Brasil Imagem Medicina Diagnóstica, Santos, SP, Brazil.

出版信息

Radiol Bras. 2017 Jan-Feb;50(1):63. doi: 10.1590/0100-3984.2015.0159.

DOI:10.1590/0100-3984.2015.0159

PMID:28298736

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5347507/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fa40/5347507/05cdd8bb4700/rb-50-01-0063-g01.jpg

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Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.脊柱骨骺干骺端发育不良导致颈椎不稳定的严重神经表现。

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):230-7. doi: 10.1002/ajmg.c.31339. Epub 2012 Jul 12.

Axial spondylometaphyseal dysplasia: additional reports.轴向脊椎-干骺端发育不良：附加报告。

Am J Med Genet A. 2011 Oct;155A(10):2521-8. doi: 10.1002/ajmg.a.34192. Epub 2011 Sep 9.

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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Am J Hum Genet. 2009 Mar;84(3):307-15. doi: 10.1016/j.ajhg.2009.01.021. Epub 2009 Feb 19.

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Spondylometaphyseal dysplasia: description of a case.脊椎干骺端发育不良：一例病例描述。

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Spondylometaphyseal dysplasia: an uncommon disease.

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