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骨软骨发育不全性侏儒症

Osteoglophonic dwarfism.

作者信息

Beighton P, Cremin B J, Kozlowski K

出版信息

Pediatr Radiol. 1980 Sep;10(1):46-50. doi: 10.1007/BF01644343.

DOI:10.1007/BF01644343
PMID:7422392
Abstract

A ten year old South African girl of mixed ancestry presented with gross facial abnormalities and dwarfism consequent upon a bizarre skeletal dysplasia. The main radiographic features were craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyl. Intelligence was normal and there were no systemic ramifications. The term "osteoglophonic dwarfism" is a succinct and apt designation for this remarkable disorder.

摘要

一名十岁的南非混血女孩因一种罕见的骨骼发育异常,出现了严重的面部畸形和侏儒症。主要的影像学特征为颅骨狭窄、纤维性发育异常、干骺端透亮区和椎体扁平。智力正常,且无全身并发症。“骨舌样侏儒症”这一术语是对这种罕见病症简洁而恰当的命名。

相似文献

1
Osteoglophonic dwarfism.骨软骨发育不全性侏儒症
Pediatr Radiol. 1980 Sep;10(1):46-50. doi: 10.1007/BF01644343.
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Osteoglophonic dysplasia: appearance and progression of multiple nonossifying fibromata.骨软骨发育异常:多发性非骨化性纤维瘤的表现及进展
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[Hypochondroplasia: importance of radiological findings in the differential diagnosis of short statures of different origin].[软骨发育不全:影像学表现在不同病因所致身材矮小鉴别诊断中的重要性]
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Osteoglophonic dysplasia: a case report.骨指发育异常:一例报告。
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Osteoglophonic Dysplasia: Phenotypic and Radiological Clues.骨舌发育不良:表型和影像学线索
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The PTH-Vitamin D-FGF23 axis.甲状旁腺激素-维生素D-成纤维细胞生长因子23轴

本文引用的文献

1
Craniofacial dysotosis with fibrous metaphyseal deffects.
Am J Roentgenol Radium Ther Nucl Med. 1975 Jun;124(2):271-5. doi: 10.2214/ajr.124.2.271.
Rev Endocr Metab Disord. 2015 Jun;16(2):165-74. doi: 10.1007/s11154-015-9318-z.
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FGF23 and Phosphate Wasting Disorders.成纤维细胞生长因子 23 与磷酸盐丢失性疾病。
Bone Res. 2013 Jun 28;1(2):120-32. doi: 10.4248/BR201302002. eCollection 2013 Jun.
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FGFR1 signaling in hypertrophic chondrocytes is attenuated by the Ras-GAP neurofibromin during endochondral bone formation.在软骨内骨形成过程中,原癌基因Ras蛋白激活蛋白神经纤维瘤蛋白可减弱肥大软骨细胞中的成纤维细胞生长因子受体1(FGFR1)信号传导。
Hum Mol Genet. 2015 May 1;24(9):2552-64. doi: 10.1093/hmg/ddv019. Epub 2015 Jan 23.
6
FGF23 and syndromes of abnormal renal phosphate handling.成纤维细胞生长因子 23 与肾脏磷处理异常综合征。
Adv Exp Med Biol. 2012;728:41-64. doi: 10.1007/978-1-4614-0887-1_3.
7
Osteoglophonic dysplasia: A 'common' mutation in a rare disease.骨颌发育不良:一种罕见疾病中的“常见”突变。
Clin Genet. 2010 Aug;78(2):197-8. doi: 10.1111/j.1399-0004.2010.01382.x. Epub 2010 Mar 5.
8
Disorders of phosphate homeostasis and tissue mineralisation.磷酸盐稳态及组织矿化紊乱。
Endocr Dev. 2009;16:133-56. doi: 10.1159/000223693. Epub 2009 Jun 3.
9
Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation.儿童遗传性低磷血症性疾病及磷调节机制的演变
Rev Endocr Metab Disord. 2008 Jun;9(2):171-80. doi: 10.1007/s11154-008-9075-3. Epub 2008 Mar 26.
10
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.导致骨肥厚发育异常的突变确定了FGFR1在骨骼生长中的新作用。
Am J Hum Genet. 2005 Feb;76(2):361-7. doi: 10.1086/427956. Epub 2004 Dec 28.