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脊柱断层评估在脊柱肋骨骺发育不良综合征患儿中的应用。

Tomographic assessment of the spine in children with spondylocostal dysotosis syndrome.

机构信息

Ludwig Boltzmann Institute of Osteology, Hanusch Hospital, WGKK, Vienna, Austria.

出版信息

Clinics (Sao Paulo). 2010;65(10):953-9. doi: 10.1590/s1807-59322010001000005.

DOI:10.1590/s1807-59322010001000005
PMID:21120293
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2972617/
Abstract

OBJECTIVE

The aim of this study was to perform a detailed tomographic analysis of the skull base, craniocervical junction, and the entire spine in seven patients with spondylocostal dysostosis syndrome.

METHOD

Detailed scanning images have been organized in accordance with the most prominent clinical pathology. The reasons behind plagiocephaly, torticollis, short immobile neck, scoliosis and rigid back have been detected. Radiographic documentation was insufficient modality.

RESULTS

Detailed computed tomography scans provided excellent delineation of the osseous abnormality pattern in our patients.

CONCLUSION

This article throws light on the most serious osseous manifestations of spondylocostal dysostosissyndrome.

摘要

目的

本研究的目的是对 7 例脊椎肋骨发育不良综合征患者的颅底、颅颈交界区和整个脊柱进行详细的断层分析。

方法

根据最突出的临床病理学对详细的扫描图像进行了组织。分析斜头畸形、斜颈、短而不能活动的颈部、脊柱侧凸和僵硬背部的原因。影像学检查不充分。

结果

详细的计算机断层扫描为我们的患者提供了极好的骨骼异常模式描绘。

结论

本文阐述了脊椎肋骨发育不良综合征最严重的骨骼表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/f2225a95021c/cln-65-10-953-g010.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/3f765bc4ceea/cln-65-10-953-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/7e6015a289f2/cln-65-10-953-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/4ce1f7e334e0/cln-65-10-953-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/89f328354cb0/cln-65-10-953-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/8efdc217df08/cln-65-10-953-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/86727acad93b/cln-65-10-953-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/2d1f16ed9ea0/cln-65-10-953-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/2ac244411604/cln-65-10-953-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/64fa969e1943/cln-65-10-953-g009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/f2225a95021c/cln-65-10-953-g010.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/3f765bc4ceea/cln-65-10-953-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/7e6015a289f2/cln-65-10-953-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/4ce1f7e334e0/cln-65-10-953-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/89f328354cb0/cln-65-10-953-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/8efdc217df08/cln-65-10-953-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/86727acad93b/cln-65-10-953-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/2d1f16ed9ea0/cln-65-10-953-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/2ac244411604/cln-65-10-953-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/64fa969e1943/cln-65-10-953-g009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f0/2972617/f2225a95021c/cln-65-10-953-g010.jpg

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本文引用的文献

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Diffuse skull base/cervical fusion syndromes in two siblings with spondylocostal dysostosis syndrome: analysis via three dimensional computed tomography scanning.患有脊椎肋骨发育不良综合征的两兄弟中的弥漫性颅底/颈椎融合综合征：通过三维计算机断层扫描进行分析
Spine (Phila Pa 1976). 2008 Jun 1;33(13):E425-8. doi: 10.1097/BRS.0b013e318175c2de.
2
Natural history of thoracic insufficiency syndrome: a spondylothoracic dysplasia perspective.胸廓发育不全综合征的自然史：脊椎胸廓发育不良视角
J Bone Joint Surg Am. 2007 Dec;89(12):2663-75. doi: 10.2106/JBJS.F.01085.
3
Formation errors of the vertebral column.
脊柱形成异常。
J Bone Joint Surg Am. 2007 Feb;89 Suppl 1:64-71. doi: 10.2106/JBJS.F.00486.
4
Honored guest presentation: craniocervical developmental anatomy and its implications.特邀嘉宾演讲：颅颈发育解剖学及其影响
Clin Neurosurg. 2005;52:53-64.
5
Spine and rib abnormalities and stature in spondylocostal dysostosis.脊椎肋骨发育不良中的脊柱和肋骨异常与身材
Spine (Phila Pa 1976). 2006 Apr 1;31(7):E192-7. doi: 10.1097/01.brs.0000208166.61618.8f.
6
Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar).脊椎腕跗骨融合综合征（伴有后正中线未分节条带）。
Skeletal Radiol. 2005 Jun;34(6):364-6. doi: 10.1007/s00256-004-0869-4. Epub 2004 Nov 16.
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The normal cervical spine in infants and children.婴幼儿的正常颈椎。
Radiology. 1952 Nov;59(5):712-9. doi: 10.1148/59.5.712.
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A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.由三个新发现的DLL3突变导致的常染色体隐性脊柱肋骨发育不良聚集病例在一个小村庄中呈分离状态。
Clin Genet. 2003 Jul;64(1):28-35. doi: 10.1034/j.1399-0004.2003.00085.x.
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