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魏森巴赫-茨韦米勒综合征。病例报告并回顾世界文献。

The Weissenbacter-Zweymuller syndrome. A case report with review of the world literatue.

作者信息

Cortina H, Aparici R, Beltran J, Alberto C

出版信息

Pediatr Radiol. 1977 Sep 1;6(2):109-11. doi: 10.1007/BF00973533.

DOI:10.1007/BF00973533
PMID:896349
Abstract

This report describes a patient with a form of chondrodysplasia characterised by a rhizomelic shorteining of the limbs, metaphyseal widening, vertebral coronal clefts and retrognathia. This syndrome was first described by Weissenbacher and Zweymuller in 1964. All the relevant literature available has been reviewed and it has been concluded there are mild and severe forms of this syndrome.

摘要

本报告描述了一名患有软骨发育不良的患者,其特征为四肢近端短小、干骺端增宽、椎体冠状裂和下颌后缩。该综合征于1964年由魏森巴赫和茨魏米勒首次描述。已对所有可得的相关文献进行了综述,并得出结论,该综合征存在轻度和重度两种形式。

相似文献

1
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.
2
Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia.
Am J Med Genet. 1992 Aug 1;43(6):989-95. doi: 10.1002/ajmg.1320430616.
3
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.
4
Dyssegmental dwarfism: a new syndrome of lethal dwarfism.
Birth Defects Orig Artic Ser. 1977;13(3D):79-90.
5
Intrinsic dwarfism presenting at birth. Preliminary communication on nomenclature.出生时即出现的先天性侏儒症。关于命名的初步交流。
S Afr Med J. 1973 Jun 23;47(24):1068-9.
6
Forms of dwarfism recognizable at birth.出生时即可识别的侏儒症类型。
Clin Orthop Relat Res. 1971 May;76:150-9. doi: 10.1097/00003086-197105000-00022.
7
[A case of chondrodysplasia difficult to classify: metatropic dwarfism or Kozlowski type spondylometaphyseal dysplasia?].
Ann Radiol (Paris). 1977 Jun;20(5):527-30.
8
Dwarfism and congenital medullary stenosis (Kenny syndrome).侏儒症与先天性髓管狭窄(肯尼综合征)。
Birth Defects Orig Artic Ser. 1974;10(12):128-32.
9
[Congenital familial dwarfism with cephaloskeletal dysplasia (Taybi-Linder syndrome)].[先天性家族性侏儒症伴头骨骼发育异常(泰比 - 林德综合征)]
Arch Fr Pediatr. 1984 Jan;41(1):57-60.
10
Neonatal lethal dwarfism with distinct skeletal malformations--a separate entity?
Pediatr Radiol. 2001 Sep;31(9):663-8. doi: 10.1007/s002470100520.

引用本文的文献

1
Congenital bowing of the long bones. A review and phenotype analysis of 13 undiagnosed cases.
Eur J Pediatr. 1980 Mar;133(2):131-8. doi: 10.1007/BF00441581.
2
Humero-spinal dysostosis.肱骨-脊柱发育不全
Pediatr Radiol. 1979 Jul 24;8(3):188-90. doi: 10.1007/BF00973833.

本文引用的文献

1
[SIMULTANEOUS OCCURRANCE OF THE PIERRE ROBIN SYNDROME AND FETAL CHONDRODYSPLASIA].[皮埃尔·罗宾综合征与胎儿软骨发育不良的同时发生]
Monatsschr Kinderheilkd (1902). 1964 Jun;112:315-7.
2
Metatropic dwarfism.变异性侏儒症
Am J Roentgenol Radium Ther Nucl Med. 1969 May;106(1):156-61. doi: 10.2214/ajr.106.1.156.
3
[Micrognathic dwarfism].[小颌侏儒症]
Presse Med (1893). 1970 Dec 12;78(53):2371-4.
4
[Diagnosis of chondrodystrophic dwarfism in the newborn].[新生儿软骨营养障碍性侏儒症的诊断]
Arch Fr Pediatr. 1968 Mar;25(3):241-62.
5
Dwarfism in the newborn: the nomenclature, radiological features and genetic significance.新生儿侏儒症:命名法、放射学特征及遗传学意义。
Br J Radiol. 1974 Feb;47(554):77-93. doi: 10.1259/0007-1285-47-554-77.
6
[Kniest's disease].[克尼斯特氏病]
Arch Fr Pediatr. 1973 Aug-Sep;30(7):735-50.
7
The Kniest syndrome.
Am J Roentgenol Radium Ther Nucl Med. 1975 Apr;123(4):805-14. doi: 10.2214/ajr.123.4.805.
8
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.