[Dyssegmental dwarfism. A new case].
作者信息
Maisonneuve J, Armand J P, Louis J J, Guibaud P
出版信息
Pediatrie. 1984 Jun;39(4):273-7.
PMID:6504670
Abstract
In a 3 1/2 month old child with micromelic dwarfism, a case of dyssegmental dwarfism is reported. This affection is characterized, on one hand, by a shortening and a squat aspect of long bones with diaphyseal curve, and on the other hand, by a trouble of vertebral segmentation associated to a variability in the size of vertebral bodies. The differential diagnosis appears adequate to differentiate the dyssegmental dwarfism from other types of neonatal chondrodysplasia, in particular from Kniest syndrome and micrognathia dwarfism.
摘要
相似文献
1
[Dyssegmental dwarfism. A new case].
Pediatrie. 1984 Jun;39(4):273-7.
2
Dyssegmental dysplasia with glaucoma.
Am J Med Genet. 1996 May 3;63(1):46-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<46::AID-AJMG10>3.0.CO;2-U.
3
Severe neonatal dwarfism resembling the Kniest and Rolland types of chondrodysplasia.
Acta Paediatr Belg. 1977 Apr-Jun;30(2):77-84.
4
Dyssegmental dwarfism: a new syndrome of lethal dwarfism.
Birth Defects Orig Artic Ser. 1977;13(3D):79-90.
5
Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias.异染性侏儒症、克尼斯特综合征和假性软骨发育不全性发育异常。
Clin Orthop Relat Res. 1976 Jan-Feb(114):70-82.
6
A severe infantile micromelic chondrodysplasia which resembles Kniest disease.一种类似于克尼斯特病的严重婴儿短肢性软骨发育不良。
Eur J Pediatr. 1976 Aug 16;123(1):29-38. doi: 10.1007/BF00497677.
7
Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects.伴有圆锥形骨骺、干骺端发育异常和椎体节段性缺陷的短肢侏儒症。
Am J Med Genet. 1996 Jan 11;61(2):164-7. doi: 10.1002/(SICI)1096-8628(19960111)61:2<164::AID-AJMG12>3.0.CO;2-S.
8
Sporadic case of dyssegmental dysplasia with antenatal presentation.
Genet Couns. 1998;9(2):125-30.
9
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.
10
Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.一例新型节段分化异常（Silverman-Handmaker型）的表型和分子特征
Eur J Med Genet. 2010 Sep-Oct;53(5):294-8. doi: 10.1016/j.ejmg.2010.06.005. Epub 2010 Jun 11.
Zotero 插件