以单卵双胎伴双侧肾缺如形式表现的弗雷泽综合征。
Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis.
作者信息
Mortimer G, McEwan H P, Yates J R
出版信息
J Med Genet. 1985 Feb;22(1):76-8. doi: 10.1136/jmg.22.1.76.
Abstract
Fraser syndrome without cryptophthalmos is described in monozygotic twins concordant for bilateral renal agenesis.
摘要
在一对同卵双胞胎中描述了无隐眼畸形的弗雷泽综合征，这对双胞胎均患有双侧肾缺如。
相似文献
1
Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis.以单卵双胎伴双侧肾缺如形式表现的弗雷泽综合征。
J Med Genet. 1985 Feb;22(1):76-8. doi: 10.1136/jmg.22.1.76.
2
[Concordant cases of renal agenesis and a caudal regressive anomalad in monozygotic twins].
Orv Hetil. 1982 Nov 28;123(48):2959-61.
3
Fraser syndrome presenting as bilateral renal agenesis in three sibs.三例同胞患以双侧肾缺如为表现的弗雷泽综合征。
J Med Genet. 1982 Oct;19(5):360-1. doi: 10.1136/jmg.19.5.360.
4
Concordant monozygotic twins with bilateral renal agenesis.双侧肾缺如的一致同卵双胞胎。
J Med Genet. 1984 Feb;21(1):66-7. doi: 10.1136/jmg.21.1.66.
5
Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.患有假双着丝粒13号染色体的单卵双胞胎男孩出现类歌舞伎综合征特征。
J Med Genet. 1995 Mar;32(3):227-30. doi: 10.1136/jmg.32.3.227.
6
Monozygotic twins concordant for tracheo-esophageal fistula and discordant for the VATER association.
Acta Paediatr Scand. 1977 Nov;66(6):783-5. doi: 10.1111/j.1651-2227.1977.tb07989.x.
7
[Fraser syndrome, renal agenesis and fetal ascites].[弗雷泽综合征、肾缺如与胎儿腹水]
An Esp Pediatr. 1993 Aug;39(2):163-6.
8
Say syndrome: a new case with cystic renal dysplasia in discordant monozygotic twins.赛氏综合征：异卵单绒毛膜双胎中一例新的囊性肾发育不良病例。
Am J Med Genet. 1997 Jun 27;70(4):353-6.
9
Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome?胼胝体发育不全、面部畸形、罗宾序列征及其他畸形：一种新的常染色体隐性综合征？
Am J Med Genet. 1988 Sep;31(1):17-23. doi: 10.1002/ajmg.1320310105.
10
An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations.一种常染色体隐性综合征，伴有鼻畸形以及肾脏和肛门直肠畸形。
Clin Dysmorphol. 2002 Jan;11(1):33-8. doi: 10.1097/00019605-200201000-00007.
引用本文的文献
1
The genetic etiologies of bilateral renal agenesis.双侧肾发育不全的遗传病因。
Prenat Diagn. 2024 Feb;44(2):205-221. doi: 10.1002/pd.6516. Epub 2024 Jan 5.
2
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.弗雷泽综合征与隐眼畸形：复杂畸形综合征诊断标准及表型模块证据综述
J Med Genet. 2002 Sep;39(9):623-33. doi: 10.1136/jmg.39.9.623.
本文引用的文献
1
Fraser syndrome presenting as bilateral renal agenesis in three sibs.三例同胞患以双侧肾缺如为表现的弗雷泽综合征。
J Med Genet. 1982 Oct;19(5):360-1. doi: 10.1136/jmg.19.5.360.
2
Concordant monozygotic twins with bilateral renal agenesis.双侧肾缺如的一致同卵双胞胎。
J Med Genet. 1984 Feb;21(1):66-7. doi: 10.1136/jmg.21.1.66.
3
[Malformative syndrome with cryptophthalmos].
Acta Genet Med Gemellol (Roma). 1969 Jan;18(1):18-50. doi: 10.1017/s1120962300012294.
4
Cryptophthalmos in two families from Bahia, Brazil.来自巴西巴伊亚两个家族的隐眼畸形。
J Med Genet. 1973 Dec;10(4):389-92. doi: 10.1136/jmg.10.4.389.
5
A family study of renal agenesis.肾缺如的家系研究。
J Med Genet. 1979 Jun;16(3):176-88. doi: 10.1136/jmg.16.3.176.
Zotero 插件