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Spondylothoracic dysplasia--a syndrome of congenital anomalies.

作者信息

Moseley J E, Bonforte R J

出版信息

Am J Roentgenol Radium Ther Nucl Med. 1969 May;106(1):166-9. doi: 10.2214/ajr.106.1.166.

DOI:10.2214/ajr.106.1.166
PMID:5769299
Abstract
摘要

相似文献

1
Spondylothoracic dysplasia--a syndrome of congenital anomalies.脊椎胸廓发育不良——一种先天性异常综合征。
Am J Roentgenol Radium Ther Nucl Med. 1969 May;106(1):166-9. doi: 10.2214/ajr.106.1.166.
2
[Description of a case of spondylo-thoracic dysplasia or Jarcho-Levin syndrome].[一例脊椎胸廓发育不良或贾科-莱文综合征病例的描述]
Pediatr Med Chir. 1998 Sep-Oct;20(5):353-5.
3
[Spondylo-costal dysostosis. Description of a case and review of the literature].[脊椎肋骨发育不全。一例病例描述及文献综述]
Pediatr Med Chir. 1988 May-Jun;10(3):339-42.
4
Spondylothoracic dysplasia in two siblings. A short neck and trunk due to vertebral body abnormalities along with abnormal ribs should suggest this rare syndrome.两名兄弟姐妹患脊椎胸廓发育不良。由于椎体异常以及肋骨异常导致的短颈和躯干短小应提示这种罕见综合征。
Clin Pediatr (Phila). 1977 Dec;16(12):1097-9. doi: 10.1177/000992287701601204.
5
Spondylothoracic dysostosis: report of two cases and review of the literature.脊椎胸廓发育不良：两例报告及文献复习
Arch Pathol Lab Med. 1978 Apr;102(4):201-5.
6
Unusual features in familial asphyxiating thoracic dysplasia (Jeune's disease).
Clin Genet. 1972;3(2):90-8. doi: 10.1111/j.1399-0004.1972.tb01731.x.
7
Segmentation anomalies of the vertebras and ribs: a developmental field defect: epidemiologic evidence.脊椎和肋骨的分割异常：一种发育场缺陷：流行病学证据。
Am J Med Genet. 1994 Jan 1;49(1):36-44. doi: 10.1002/ajmg.1320490109.
8
Second trimester prenatal diagnosis of the Jarcho-Levin syndrome.孕中期对贾科-莱文综合征的产前诊断。
Prenat Diagn. 1987 Feb;7(2):129-34. doi: 10.1002/pd.1970070209.
9
Pathological case of the month. Spondylothoracic dysplasia with multiple congenital cardiac anomalies.本月病理病例。伴有多种先天性心脏异常的脊椎胸廓发育不良。
Arch Pediatr Adolesc Med. 1996 Feb;150(2):221-2. doi: 10.1001/archpedi.1996.02170270103017.
10
Acrocephalospondylosyndactyly--a possible new syndrome: analysis of the vertebral and intervertebral components.
Pediatr Pathol. 1990;10(1-2):117-31. doi: 10.3109/15513819009067101.

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Clin Case Rep. 2022 Jul 11;10(7):e6000. doi: 10.1002/ccr3.6000. eCollection 2022 Jul.
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Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the Literature.
一名7岁斯里兰卡女孩患脊椎肋骨发育不良致限制性肺病：病例报告及文献综述
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BMJ Case Rep. 2015 Jul 21;2015:bcr2015210240. doi: 10.1136/bcr-2015-210240.
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Genetic aspects of congenital and idiopathic scoliosis.先天性和特发性脊柱侧凸的遗传学方面
Scientifica (Cairo). 2012;2012:152365. doi: 10.6064/2012/152365. Epub 2012 Dec 31.
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Sporadic occurrence of jarcho-levin syndrome in an ivorian newborn.一名科特迪瓦新生儿散发性贾科-莱文综合征病例
Case Rep Orthop. 2013;2013:129625. doi: 10.1155/2013/129625. Epub 2013 Sep 11.
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Clinical, genetic and environmental factors associated with congenital vertebral malformations.与先天性椎体畸形相关的临床、遗传和环境因素。
Mol Syndromol. 2013 Feb;4(1-2):94-105. doi: 10.1159/000345329.
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Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome).胸腰椎发育不良（拉维-莫斯利综合征）与脊柱肋发育不良（雅可布-莱文综合征）的临床和影像学鉴别。
Pediatr Radiol. 2011 Mar;41(3):384-8. doi: 10.1007/s00247-010-1928-8. Epub 2010 Dec 22.
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Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.MESP2基因的突变会导致脊椎胸廓发育不良/贾科-莱文综合征。
Am J Hum Genet. 2008 Jun;82(6):1334-41. doi: 10.1016/j.ajhg.2008.04.014. Epub 2008 May 15.
10
Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.18号染色体q22.2至qter缺失与一种伴有多个椎体节段性缺陷的先天性异常综合征。
J Med Genet. 1997 May;34(5):414-7. doi: 10.1136/jmg.34.5.414.