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出生时伴有小颌畸形和近侧肢体短小性软骨发育不良的魏森巴赫-茨韦米勒综合征,随后生长正常。

The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.

作者信息

Haller J O, Berdon W E, Robinow M, Slovis T L, Baker D H, Johnson G F

出版信息

Am J Roentgenol Radium Ther Nucl Med. 1975 Dec;125(4):936-43. doi: 10.2214/ajr.125.4.936.

DOI:10.2214/ajr.125.4.936
PMID:813535
Abstract

Two patients are reported with the clinical and roentgenographic findings of the Weissenbacher-Zweymuller syndrome. The features are neonatal micrognathia (Pierre Robin syndrome), rhizomelic chondrodysplasia with dumbbell shaped femur and humeri. The bone changes tend to regress and there is normal growth on serial studies. A third case seemed at birth to show similar roentgenographic changes but was dwarfed; serial observations revealed him to be a case of the Kniest syndrome with micrognathia as an added feature. The term "micrognathic dwarfism" suggested by Maroteaux is probably best aboided since it will inevitably include a variety of conditions, only some of which are associated with dwarfism.

摘要

报告了两名患有魏森巴赫-茨韦米勒综合征临床和影像学表现的患者。其特征为新生儿小颌畸形(皮埃尔·罗宾综合征)、伴有哑铃状股骨和肱骨的近侧段短小性软骨发育不良。骨骼改变有逐渐消退的趋势,系列研究显示生长正常。第三例患者出生时似乎有类似的影像学改变,但身材矮小;系列观察发现他是一名伴有小颌畸形这一附加特征的克尼斯特综合征患者。马罗泰提出的“小颌侏儒症”一词或许最好避免使用,因为它必然会涵盖多种病症,其中只有一些与侏儒症相关。

相似文献

1
The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.出生时伴有小颌畸形和近侧肢体短小性软骨发育不良的魏森巴赫-茨韦米勒综合征,随后生长正常。
Am J Roentgenol Radium Ther Nucl Med. 1975 Dec;125(4):936-43. doi: 10.2214/ajr.125.4.936.
2
The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome.
Am J Med Genet. 1982 Jan;11(1):113-9. doi: 10.1002/ajmg.1320110113.
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Acampomelic campomelic dysplasia.
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[Micrognathic dwarfism].[小颌侏儒症]
Presse Med (1893). 1970 Dec 12;78(53):2371-4.
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First-trimester diagnosis of micrognathia as a presentation of Pierre Robin syndrome.孕早期诊断小颌畸形作为皮埃尔·罗宾综合征的一种表现。
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6
The Weissenbacter-Zweymuller syndrome. A case report with review of the world literatue.魏森巴赫-茨韦米勒综合征。病例报告并回顾世界文献。
Pediatr Radiol. 1977 Sep 1;6(2):109-11. doi: 10.1007/BF00973533.
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Prenatal ultrasound detection of micrognathia and its association with Robin sequence.
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[Dyssegmental dwarfism. A new case].[节段性侏儒症。一例新病例]
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[Pierre Robin syndrome treated by physiotherapy electromyography assisted].[经物理治疗肌电图辅助治疗的皮埃尔·罗宾综合征]
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Micrognathia and Oropharyngeal Space in Patients With Robin Sequence: Prenatal MRI Measurements.罗宾序列征患者的小颌畸形与口咽间隙:产前MRI测量
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引用本文的文献

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An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.一种继发于核纤层蛋白B受体(LBR)基因突变的类短肢发育异常、可自发缓解的脊椎干骺端发育不良:LBR骨发育不良表型异质性的进一步界定
Am J Med Genet A. 2015 Jan;167A(1):159-63. doi: 10.1002/ajmg.a.36808. Epub 2014 Oct 27.
2
Kniest disease with Pierre Robin syndrome and hydrocephalus.伴有皮埃尔·罗宾综合征和脑积水的克尼斯特病
Pediatr Radiol. 1983;13(2):106-9. doi: 10.1007/BF02390113.
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Macroepiphyseal dysplasia with symptomatic osteoporosis, wrinkled skin, and aged appearance: a presumed autosomal recessive condition.
伴有症状性骨质疏松、皮肤皱纹和老年外观的大骨骺发育不良:一种推测为常染色体隐性遗传病。
Skeletal Radiol. 1986;15(1):47-51. doi: 10.1007/BF00355073.
4
The Weissenbacter-Zweymuller syndrome. A case report with review of the world literatue.魏森巴赫-茨韦米勒综合征。病例报告并回顾世界文献。
Pediatr Radiol. 1977 Sep 1;6(2):109-11. doi: 10.1007/BF00973533.